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Rare manifestation of familial vitreous amyloidosis caused by Gly103Arg transthyretin
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作者 Yan-Bing Feng Yan-Bo Shi +3 位作者 Yan-Yan He Zhen-Yi Ma Yi-Xing Zhu Wen-Qing Weng 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2023年第7期1093-1099,共7页
AIM:To identify and analyze the genotype of the patients with special ocular manifestations of familial vitreous amyloidosis(FVA)in a Chinese Han family.METHODS:Pars plana vitrectomy(PPV)surgery was performed on a 52-... AIM:To identify and analyze the genotype of the patients with special ocular manifestations of familial vitreous amyloidosis(FVA)in a Chinese Han family.METHODS:Pars plana vitrectomy(PPV)surgery was performed on a 52-year-old Chinese woman presented with vitreous amyloidosis and progressive visual impairment,without evidence of cardiac,renal,gastrointestinal,central nervous system or peripheral nervous system dysfunction.During the surgery,the patient presented with a gray-white dense and thick cotton woollike change in the vitreous body,accompanied by complete retinal detachment.Additionally,hard,free and movable yellow-white deposits were observed in the posterior pole and surrounding retina,the vitreous and subretinal deposits were examined by Congo red staining and immunohistochemical pathological examination,and whole exome sequencing was performed on blood samples from the patient and her cousin.RESULTS:During the operation,it was discovered that there was a complete detachment of the retina and a significant amount of hard,free-floating yellow-white deposits were observed beneath the posterior pole and surrounding retina.This is an exceedingly rare ocular manifestation.Pathological examination of the vitreous and subretinal deposit specimens revealed positive Congo red staining,as well as elevated vascular endothelial growth factor(VEGF)expression in vascular endothelial cells within the sediment specimens upon immunohistochemical examination.The patient and her cousin both exhibited a heterozygous mutation in Glyl03Arg within the transthyretin(TTR)gene,resulting in a substitution of glycine(Gly)at position 103 with arginine(Arg).CONCLUSION:FVA may present with various ocular manifestations,but panretinal detachment is a rare occurrence.In cases where retinal detachment persists for an extended period of time,amyloid deposits may form under the retina through retinal tears,leading to subretinal deposits that can impede retinal reattachment and negatively impact visual prognosis.Elevated levels of VEGF in the eyes of FVA patients may indicate an overexpression state,necessitating careful postoperative follow-up.The heterozygous mutation Gly103Arg may represent a unique pathogenic site in Chinese individuals. 展开更多
关键词 familial vitreous amyloidosis transthyretin gene Gly103Arg vascular endothelial growth factor
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ABCB4 gene mutation-associated cirrhosis with systemic amyloidosis:A case report
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作者 Na Cheng Yu-Jie Qin +1 位作者 Quan Zhang Hong Li 《World Journal of Clinical Cases》 SCIE 2023年第20期4903-4911,共9页
BACKGROUND Gene mutations in ATP-binding cassette,subfamily B(ABCB4)lead to autosomal recessive disorders.Primary light amyloidosis is a rare and incurable disease.Here,we report a rare case of liver cirrhosis caused ... BACKGROUND Gene mutations in ATP-binding cassette,subfamily B(ABCB4)lead to autosomal recessive disorders.Primary light amyloidosis is a rare and incurable disease.Here,we report a rare case of liver cirrhosis caused by ABCB4 gene mutation combined with primary light amyloidosis.CASE SUMMARY We report a case of a 25-year-old female who was hospitalized due to recurrent abdominal pain caused by calculous cholecystitis and underwent cholecystectomy.Pathological examination of the liver tissue suggested liver cirrhosis with bile duct injury.Exon analyses of the whole genome from the patient’s peripheral blood revealed the presence of a heterozygous mutation in the ABCB4 gene.Bone marrow biopsy tissues,renal puncture examination,and liver mass spectrometry confirmed the diagnosis of a rare progressive familial intrahepatic cholestasis type 3 with systemic light chain type κ amyloidosis,which resulted in cirrhosis.Ursodeoxycholic acid and the cluster of differentiation 38 monoclonal antibody daretozumab were administered for treatment.Following treatment,the patient demonstrated significant improvement.Urinary protein became negative,peripheral blood-free light chain and urine-free light chain levels returned to normal,and the electrocardiogram showed no abnormalities.Additionally,the patient’s lower limb numbness resolved,and her condition remained stable.CONCLUSION This report presents the diagnosis and treatment of liver cirrhosis,a rare disease that is easily misdiagnosed or missed. 展开更多
关键词 ABCB4 gene Progressive familial intrahepatic cholestasis 3 CIRRHOSIS Systemic amyloidosis Case report
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A New Arg54Gly Transthyretin Gene Mutation Associated with Vitreous Amyloidosis in Chinese 被引量:10
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作者 Yining Shi Jing Li +7 位作者 Jia Hu Jun Hu Lijun Sun Huijin Li Rui Shi Le Yang Ye Sun Chan Li 《Eye Science》 CAS 2011年第4期230-238,共9页
Purpose:To analyse the hereditary features of a Chinese pedigree with familial vitreous amyloidosis in Liaoning Province,China,and to investigate the correlation between the clinical appearance of the disease and tran... Purpose:To analyse the hereditary features of a Chinese pedigree with familial vitreous amyloidosis in Liaoning Province,China,and to investigate the correlation between the clinical appearance of the disease and transthyretin(TTR)gene mutation,including the locus and type of TTR gene mutation.Methods:Five patients (10 eyes) from one Chinese family were diagnosed with vitreous amyloidosis between July 1996 and April 2009.Family members were followed up subsequently,and peripheral venous blood was obtained from 13 subjects (including 2 patients,and 11 controls without clinical signs of disease).DNA samples were extracted and 4 exons of the TTR gene were amplified by polymerase chain reaction (PCR).The gene fragments were subjected to sequencing analysis.The results were analyzed with DNAMAN Windows 5.2.2.0 and Chromas sequence chart analysis software,TTR gene exons were compared between affected patients and normal controls.Results:Family pedigree analysis revealed that patients were distributed in three generations.Male and female subjects had equal prevalence,and only one parent of affected patients had signs of disease.TTR gene exon sequencing showed that the sequence of patients was identical to that of normal individuals.No TTR gene mutations were noted in 10 unaffected family members.However,a TTR Gly-54 point mutation in the 2nd exon was detected in two patients and 1 unaffected family member (one of the patients' daughters).Vitreous samples in 4 cases (7 eyes) showed positive Congo red staining,suggesting that these family members suffered from familial vitreous amyloidosis.Conclusion:This pedigree affected with familial vitreous amyloidosis was characterized by autosomal dominant inheritance;.a TTR Gly-54 point mutation in the 2nd exon is presumed to be the cause.This Gly-54 point mutation of the TTR gene is a novel mutation in vitreous amyloidosis. 展开更多
关键词 淀粉样变性 基因突变 甲状腺素 玻璃体 中国 第二外显子 Windows 点突变检测
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A Theory of Bio-Quantum Genetics
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作者 Jianzhong Zhao 《Journal of Quantum Information Science》 CAS 2024年第1期15-27,共13页
The physical mechanism of heredity or inheritance of genes is a quantum mechanical and/or quantum computational process. A theory of bio-quantum genetics is established in this paper. Principle of Bio-quantum Genetics... The physical mechanism of heredity or inheritance of genes is a quantum mechanical and/or quantum computational process. A theory of bio-quantum genetics is established in this paper. Principle of Bio-quantum Genetics is suggested. I propose and define the soft-genes of genetics controlling the processes of heredity or inheritance of genes. This research deals with the quantum mechanisms of Mendel plant heredity and family inheritance as examples of bio-quantum genetics, deepening our understanding of heredity or inheritance. I believe that more contributions will be made to promote researches of bio-quantum genetics or quantum biology at large. 展开更多
关键词 Bio-Quantum genetics Quantum Mechanics GENES Soft Genes Quantum Mechanism of Mendel Plant Heredity Quantum Mechanism of Family Inheritance
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Familial hypercholesterolemia:Current limitations and future breakthroughs
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作者 Ze Xiang Jia-Rui Li +2 位作者 Wei-Min Wan Shu-Hui Li Jian Wu 《World Journal of Experimental Medicine》 2024年第4期174-177,共4页
Familial hypercholesterolemia(FH)is characterized by elevated low-density lipoprotein cholesterol levels due to genetic mutations,presenting with xanthomas,corneal arch,and severe cardiovascular diseases.Early identif... Familial hypercholesterolemia(FH)is characterized by elevated low-density lipoprotein cholesterol levels due to genetic mutations,presenting with xanthomas,corneal arch,and severe cardiovascular diseases.Early identification,diagnosis,and treatment are crucial to prevent severe complications like acute myocardial infarction.Statins are the primary treatment,supplemented by Ezetimibe and proprotein convertase subtilisin/kexin type 9 inhibitors,though their effectiveness can be limited in severe cases.Over 90%of FH cases remain undiagnosed,and current treatments are often inadequate,underscoring the need for improved diagnostic and management systems.Future strategies include advancements in gene testing,precision medicine,and novel drugs,along with gene therapy approaches like AAV-mediated gene therapy and clustered regularly interspaced short palindromic repeats.Lifestyle modifications,including health education,dietary control,and regular exercise,are essential for managing FH and preventing related diseases.Research into FH-related gene mutations,especially LDLR,is critical for accurate diagnosis and effective treatment. 展开更多
关键词 familial hypercholesterolemia genetic mutations TREATMENT LIMITATIONS Breakthroughs
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Protocol of Investigation on Sudden Death at Autopsy, Including Molecular, Genetic and Toxicology Testing
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作者 Gaetano Thiene Donata Favretto 《World Journal of Cardiovascular Surgery》 2024年第6期78-86,共9页
The role of the autopsy: 1) Whether the death is ascribable to a natural or unnatural cause and when natural, if cardiac or extra-cardiac;2) The nosology of the cardiac diseases and the mechanism of cardiac death, whe... The role of the autopsy: 1) Whether the death is ascribable to a natural or unnatural cause and when natural, if cardiac or extra-cardiac;2) The nosology of the cardiac diseases and the mechanism of cardiac death, whether arrhythmic or mechanical;3) If the cardiac disease is inherited, screening and counselling of the next of kin is required. About 30% of sudden deaths is ascribable to genetically determined morbid entities, mostly transmissible with the autosomal dominant pattern of inheritance, so that 50% of the first degree relatives are genetically affected (“carriers”) and exposed at risk;4) If toxic or illicit drug abuse was involved. 展开更多
关键词 Family Screening genetics INHERITANCE Molecular Autopsy Sudden Death TOXICOLOGY
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Recent advances in transthyretin amyloidosis therapy 被引量:1
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作者 Mitsuharu Ueda Yukio Ando 《Translational Neurodegeneration》 SCIE CAS 2014年第1期131-140,共10页
Mutant(MT)forms of transthyretin(TTR)cause the most common type of autosomal-dominant hereditary systemic amyloidosis—familial amyloidotic polyneuropathy(FAP).Until 20 years ago,FAP was thought to be an endemic disea... Mutant(MT)forms of transthyretin(TTR)cause the most common type of autosomal-dominant hereditary systemic amyloidosis—familial amyloidotic polyneuropathy(FAP).Until 20 years ago,FAP was thought to be an endemic disease,but FAP is known to occur worldwide.To date,more than 130 mutations in the TTR gene have been reported.Genotype-phenotype correlations are seen in FAP,and some variation in clinical presentation is often observed in individual kindreds with the same mutation and even among family members.Of the pathogenic TTR mutations,Val30Met was the first to be identified and is the most frequent known mutation found throughout the world.Studies of patients with FAP amyloidogenic TTR(ATTR)Val30Met documented sensorimotor polyneuropathy,autonomic dysfunction,heart and kidney failure,gastrointestinal tract(GI)disorders,and other symptoms leading to death,usually within 10 years of the onset of disease.Diagnosis is sometimes delayed,especially in patients without a clear family history and typical clinical manifestations,since diagnosis requires various studies and techniques such as histopathology,genetic testing,and mass spectrometry.For treatment of FAP,liver transplantation(LT)reportedly halts the progression of clinical manifestations.Exchange of an FAP patient’s diseased liver with a healthy liver causes MT TTR in the body to be replaced by wild-type(WT)TTR.Although clinical evaluations indicated that progression of other clinical symptoms such as peripheral neuropathy,GI symptoms,and renal involvement usually halted after LT in FAP ATTR Val30Met patients,recent studies suggested that LT failed to prevent progression of cardiac amyloidosis in FAP ATTR Val30Met patients after LT,with this failure reportedly being due to continued formation of amyloid that derived mainly from WT TTR secreted from the transplanted non-mutant liver graft.In recent years,many therapeutic strategies have been proposed,and several ongoing therapeutic trials involve,for example,stabilizers of TTR tetramers(tafamidis and diflunisal)and gene therapies to suppress TTR expression(antisense methods and use of small interfering RNAs).These novel therapies may prove to prevent progression of FAP. 展开更多
关键词 TRANSTHYRETIN amyloidosis familial amyloidotic polyneuropathy Senile systemic amyloidosis Immunotherapy Gene therapy
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Familial aggregation in inflammatory bowel disease:Is it genes or environment? 被引量:9
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作者 Tiago Nunes Gionata Fiorino +1 位作者 Silvio Danese Miquel Sans 《World Journal of Gastroenterology》 SCIE CAS CSCD 2011年第22期2715-2722,共8页
Inflammatory bowel disease (IBD) develops in genetically susceptible individuals due to the influence of environmental factors, leading to an abnormal recognition of microbiota antigens by the innate immune system whi... Inflammatory bowel disease (IBD) develops in genetically susceptible individuals due to the influence of environmental factors, leading to an abnormal recognition of microbiota antigens by the innate immune system which triggers an exaggerated immune response and subsequent bowel tissue damage. IBD has been more frequently found in families, an observation that could be due to either genetic, environmental or both types of factors present in these families. In addition to expanding our knowledge on IBD pathogenesis, defining the specific contribution to familial IBD of each one of these factors might have also clinical usefulness. We review the available evidence on familial IBD pathogenesis. 展开更多
关键词 Inflammatory bowel disease familial aggregation familial clustering Environmental factors genetics Genome wide association studies
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New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report 被引量:6
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作者 Chun-Shan Wei Naja Becher +3 位作者 Jenny Blechingberg Friis Peter Ott Ida Vogel Henning Grønbæk 《World Journal of Gastroenterology》 SCIE CAS 2020年第5期550-561,共12页
BACKGROUND Progressive familial intrahepatic cholestasis(PFIC)encompasses a group of autosomal recessive disorders with high morbidity and mortality.Variants in the gene encoding tight junction protein-2(TJP2)have bee... BACKGROUND Progressive familial intrahepatic cholestasis(PFIC)encompasses a group of autosomal recessive disorders with high morbidity and mortality.Variants in the gene encoding tight junction protein-2(TJP2)have been linked to PFIC type 4(PFIC4),which predominantly presents in childhood.However,there are only limited data from adults with TJP2-related PFIC4.We report a family with an autosomal recessive disorder with a novel variant in the TJP2 gene in adults with very variable expression of PFIC4.CASE SUMMARY The index patient presented at 19 years old with liver cirrhosis and variceal bleeding and was treated with endoscopic banding and beta-blockers.In 2018,he developed primary liver cancer that was treated with radiofrequency ablation followed by liver transplantation in 2019.Genetic testing revealed a novel homozygous TJP2 variant causing PFIC4(TJP2([NM_004817.3]:c.[3334C>T];[3334C>T])).The consanguineous family consists of the father and mother(both heterozygous)and their 12 children,of which five carry the variant in a homozygous state;however,these five siblings have highly variable expression of PFIC4.Two homozygous brothers had cirrhosis and portal hypertension at diagnosis at the ages of 19 and 36.Two other homozygous brothers,age 23 and 19,and the homozygous sister,age 21,have elevated liver enzymes but presently no cirrhosis,which may suggest an age-dependent penetrance.In addition,five sisters had severe and mild intrahepatic cholestasis of pregnancy and carry the TJP2 variant in a homozygous and heterozygous state,respectively.CONCLUSION This novel TJP2 variant is associated with PFIC4 causing severe liver disease with cirrhosis and primary liver cancer in adolescents/adults. 展开更多
关键词 Progressive familial intrahepatic cholestasis Tight junction protein 2 genetic variants Liver cirrhosis Liver cancer Case report
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Familial pancreatic cancer: Concept, management and issues 被引量:6
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作者 Hiroyuki Matsubayashi Kyoichi Takaori +27 位作者 Chigusa Morizane Hiroyuki Maguchi Masamichi Mizuma Hideaki Takahashi Keita Wada Hiroko Hosoi Shinichi Yachida Masami Suzuki Risa Usui Toru Furukawa Junji Furuse Takamitsu Sato Makoto Ueno Yoshimi Kiyozumi Susumu Hijioka Nobumasa Mizuno Takeshi Terashima Masaki Mizumoto Yuzo Kodama Masako Torishima Takahisa Kawaguchi Reiko Ashida Masayuki Kitano Keiji Hanada Masayuki Furukawa Ken Kawabe Yoshiyuki Majima Toru Shimosegawa 《World Journal of Gastroenterology》 SCIE CAS 2017年第6期935-948,共14页
Familial pancreatic cancer (FPC) is broadly defined as two first-degree-relatives with pancreatic cancer (PC) and accounts for 4%-10% of PC. Several genetic syndromes, including Peutz-Jeghers syndrome, hereditary panc... Familial pancreatic cancer (FPC) is broadly defined as two first-degree-relatives with pancreatic cancer (PC) and accounts for 4%-10% of PC. Several genetic syndromes, including Peutz-Jeghers syndrome, hereditary pancreatitis, hereditary breast-ovarian cancer syndrome(HBOC), Lynch syndrome, and familial adenomatous polyposis (FAP), also have increased risks of PC, but the narrowest definition of FPC excludes these known syndromes. When compared with other familial tumors, proven genetic alterations are limited to a small proportion (<20%) and the familial aggregation is usually modest. However, an ethnic deviation (Ashkenazi Jewish>Caucasian) and a younger onset are common also in FPC. In European countries, "anticipation" is reported in FPC families, as with other hereditary syndromes; a trend toward younger age and worse prognosis is recognized in the late years. The resected pancreases of FPC kindred often show multiple pancreatic intraepithelial neoplasia (Pan IN) foci, with various K-ras mutations, similar to colorectal polyposis seen in the FAP patients. As with HBOC patients, a patient who is a BRCA mutation carrier with unresectable pancreatic cancer (accounting for 0%-19% of FPC patients) demonstrated better outcome following platinum and Poly (ADP-ribose) polymerase inhibitor treatment. Western countries have established FPC registries since the 1990 s and several surveillance projects for highrisk individuals are now ongoing to detect early PCs. Improvement in lifestyle habits, including non-smoking, is recommended for individuals at risk. In Japan, the FPC study group was initiated in 2013 and the Japanese FPC registry was established in 2014 by the Japan Pancreas Society. 展开更多
关键词 familial pancreatic cancer REGISTRY high risk genetIC SURVEILLANCE
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Epidemiology and genetics of ventricular fibrillation during acute myocardial infarction 被引量:6
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作者 Charlotte Glinge Stefan Sattler +1 位作者 Reza Jabbari Jacob Tfelt-Hansen 《Journal of Geriatric Cardiology》 SCIE CAS CSCD 2016年第9期789-797,共9页
Sudden cardiac death (SCD) from ventricular fibrillation (VF) during coronary artery disease (CAD) is a leading cause of total and cardiovascular mortality, and in more than half of SCD cases VF occurs as the fi... Sudden cardiac death (SCD) from ventricular fibrillation (VF) during coronary artery disease (CAD) is a leading cause of total and cardiovascular mortality, and in more than half of SCD cases VF occurs as the first symptom of CAD. Several epidemiological studies have shown that sudden death of a family member is a risk factor for SCD and VF during acute myocardial infarction (MI), independent of traditional risk factors including family history of MI, suggesting a genetic component in the susceptibility to VF. To prevent SCD and VF due to MI, we need a better understanding of the genetic and molecular mechanisms causing VF in this apparently healthy population. Even though new insights and technologies have become available, the genetic predisposition to VF during MI remains poorly understood. Findings from a variety of different genetic studies have failed to reach reproducibility, although several genetic variants, both common and rare variants, have been associated to either VF or SCD. For this review, we searched PubMed for potentially relevant articles, using the following MeSH-terms: "sudden cardiac death", "ventricular fibrillation", "out-of-hospital cardiac arrest", "myocardial infarction, myocardial ische- mia", "coronary artery disease", and "genetics". This review describes the epidemiology and evidence for genetic susceptibility to VF due to MI. 展开更多
关键词 Family history genetics Myocardial infarction Sudden cardiac death Ventricular fibrillation
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Genetic Variation in Growth and Cone Traits of Pinus Koraiensis Half-Sib Families in Northeast China 被引量:4
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作者 David Kombi Kaviriri Xiaoting Liu +6 位作者 Zuoyi Fan Jingyuan Wang Qi Wang Lianfu Wang Lixing Wang Damase Khasa Xiyang Zhao 《Phyton-International Journal of Experimental Botany》 SCIE 2020年第1期57-69,共13页
Genetic parameters were evaluated for growth and cone characteristics(tree height,diameter at breast height,volume,cone number,thousand seeds weight and single cone seeds weight)on 86 half-sib families of Pinus koraie... Genetic parameters were evaluated for growth and cone characteristics(tree height,diameter at breast height,volume,cone number,thousand seeds weight and single cone seeds weight)on 86 half-sib families of Pinus koraiensis aged 31 years.Analyses of variance revealed significant differences(p<0.001)in all growth and cone traits among families while no significant differences were detected among blocks and the interaction between blocks and families.The average family values for growth traits were 17.22 m,8.67 cm and 0.43 m^(3) for tree height,diameter at breast height and volume,respectively.The average cone number,thousand seeds weight and single cone seeds weight were 17.57,748.91 g and 77.25 g,respectively.Genotypic additive variance and phenotypic variances ranged from 0.00009 to 3.820 and from 0.0005 to 23.066,while genotypic and phenotypic coefficients of variation ranged from 2.693%to 37.196%and 4.963%to 60.595%,respectively.Heritability at the individual and family level ranged from 0.152 to 0.215 and 0.611 to 0.862,respectively.Growth traits were significantly positively correlated with each other,but cone traits showed a weak correlation with growth traits.Based on 10% selection rate,nine families each were selected as elite materials in terms of high performance in volume and cone numbers,with 22.16%and 43.82%genetic gain in volume and cone number,respectively.These results provide beneficial information to select excellent families and establish orchards of P.koraiensis from improved seeds. 展开更多
关键词 Pinus koraiensis half-sib families genetIC variation selection
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Evidence from a familial case suggests maternal inheritance of primary biliary cholangitis 被引量:3
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作者 Saeam Shin In Ho Moh +8 位作者 Young Sik Woo Sung Won Jung Jin Bae Kim Ji Won Park Ki Tae Suk Hyoung Su Kim Mineui Hong Sang Hoon Park Myung Seok Lee 《World Journal of Gastroenterology》 SCIE CAS 2017年第39期7191-7197,共7页
Primary biliary cholangitis(PBC) is an idiopathic autoimmune liver disease characterized by chronic cholestasis and destruction of the intrahepatic bile ducts. Similar to other autoimmune diseases, the pathogenesis of... Primary biliary cholangitis(PBC) is an idiopathic autoimmune liver disease characterized by chronic cholestasis and destruction of the intrahepatic bile ducts. Similar to other autoimmune diseases, the pathogenesis of PBC is considered to be a complex etiologic phenomenon involving the interaction of genetic and environmental factors. Although a number of common variants associated with PBC have been reported from genome-wide association studies, a precise genetic mechanism underlying PBC has yet to be identified. Here, we describe a family with four sisters who were diagnosed with PBC. After the diagnosis of the index patient who was in an advanced stage of PBC, one sister presented with acute hepatitis, and two sisters were subsequently diagnosed with PBC. Notably, one half-sister with a different mother exhibited no evidence of PBC following clinical investigation. Our report suggests the possibility of a maternal inheritance of PBC susceptibility. Moreover, judging from the highpenetrance of the disease observed in this family, we inferred that a pathogenic genetic variant might be the cause of PBC development. We describe a family that exhibited diverse clinical presentations of PBC that included asymptomatic stages with mildly increased liver enzyme levels and symptomatic stages with acute hepatitis or advanced liver fibrosis. Additional studies are needed to investigate the role of genetic factors in the pathogenesis of this rare autoimmune disease. 展开更多
关键词 Primary biliary cholangitis Family history genetic susceptibility
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Effect of genetic sources on anatomical, morphological,and mechanical properties of 14-year-old genetically improved loblolly pine families from two sites in the southern United States
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作者 Charles Essien Brian K.Via +3 位作者 Gifty Acquah Thomas Gallagher Timothy McDonald Lori Eckhardt 《Journal of Forestry Research》 SCIE CAS CSCD 2018年第6期1519-1531,共13页
Tree improvement programs on loblolly pine(Pinus taeda) in the southeastern USA has focused primarily on improving growth, form, and disease tolerance.However, due to the recent reduction of design values for visually... Tree improvement programs on loblolly pine(Pinus taeda) in the southeastern USA has focused primarily on improving growth, form, and disease tolerance.However, due to the recent reduction of design values for visually graded southern yellow pine lumber(including loblolly pine), attention has been drawn to the material quality of genetically improved loblolly pine. In this study,we used the time-of-flight(TOF) acoustic tool to assess the effect of genetic families on diameter, slenderness, fiber length, microfibril angle(MFA), velocity and dynamic stiffness estimated using green density(DMOEG) and basic density(DMOEB) of 14-year-old loblolly pine stands selected from two sites. All the 184 and 204 trees of the selected eight half-sib genetic families on sites 1 and 2 respectively were tested using TOF acoustic tool, and two 5 mm core samples taken at breast height level(1.3 m)used to for the anatomical and physical properties analysis.The results indicated a significant positive linear relationship between dynamic MOEs(DMOEGand DMOEB)versus tree diameter, slenderness, and fiber length while dynamic MOEs negatively but nonsignificant correlated with MFA. While there was no significant difference in DMOEBbetween sites; velocity 2 for site 1 was significantly higher than site 2 but DMOEGwas higher for site 2 than site 1. Again, the mean DMOEGand DMOEBreported in the present study presents a snapshot of the expected static MOE for green and 12% moisture conditions respectively for loblolly pine. Furthermore, there were significant differences between families for most of the traits measured and this suggests that forest managers have the opportunity to select families that exhibit the desired fiber morphology for final product performance. Lastly,since the dynamic MOE based on green density(DMOEG),basic density(DMOEB) and velocity 2 present difference conclusions, practitioners of this type of acoustic technique should take care when extrapolating results across the sites. 展开更多
关键词 genetic families Loblolly pine TIME-OF-FLIGHT Resonance-based Modulus of elasticity Modulus of rupture
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Familial Background as a Hidden Cause for Obesity among College Going Girls
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作者 Anita Garg Mangla Neeru Dhamija +1 位作者 Urvashi Gupta Meenal Dhall 《Journal of Biosciences and Medicines》 2019年第4期1-13,共13页
Background: Rapid changes in global economies and industrialization have resulted in switch from traditional diets and labor intensive life-style to consumption of modern calorierich diets loaded with fat and sugar co... Background: Rapid changes in global economies and industrialization have resulted in switch from traditional diets and labor intensive life-style to consumption of modern calorierich diets loaded with fat and sugar contents, accompanied with sedentary lifestyle further leading to onset of numerous non-communicable, chronic disorders;obesity being one of them. This study aims at investigating risk posed by family history of obesity over the generations for inducing extreme overweight conditions among adolescent females of Delhi. Methods: Present work is a cross-sectional study conducted in Delhi (India) with sample size of 444 females aged between 18 - 22 years. Socio-demographic aspect along with lifestyle-related profile of participants was assessed using a self-administered proforma. Prior history of obesity among family members, if any, was noted as well, and anthropometric and physiologic measurements were recorded using well established customary techniques. Analysis was carried out in SPSS 20.0. Results: Participants holding a history for obesity in family were comparatively more obese than their counterparts. Positive family history for the same has been found possessing a notably closer association with elevated levels of adiposity determined by various physical and physiological variables. Conclusion: Family history of excessive fatness develops high risk of pathological manifestation for the same in upcoming generations that needs to be administered effectively—at individual or population level, and addressed efficiently by one’s family or by the prevailing governmental provisions. 展开更多
关键词 OBESITY Family History genetic PREDISPOSITION DELHI Behavioral Patterns
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Familial Lupus and Clinical Characteristics in Saudi Arabia
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作者 Jamal Abdullah Albishri Samar Saad Alshehri +1 位作者 Alwalaa Mohammed Altowairqi Reem Magboul Aljuaid 《International Journal of Clinical Medicine》 2015年第12期899-905,共7页
Background: It has been proven that a family history of systemic lupus erythematosus (SLE) is a risk factor for the development of the disease, and the risk increases with increasing number of relatives affected. In S... Background: It has been proven that a family history of systemic lupus erythematosus (SLE) is a risk factor for the development of the disease, and the risk increases with increasing number of relatives affected. In Saudi Arabia, high consanguinity rate leads to higher incidence of familial form than in other countries. We compare the percentage of familial versus sporadic SLE among Saudi patients. The second aim of the present study is to compare clinical characteristics between the two forms of the disease. Methods: This cross-sectional study includes 47 female patients whom are selected and investigated through three phases. We have added additional two categories of relatives, based on unconventional definition. We have examined and compared demographic characteristics of the patients with familial and sporadic SLE. We have also compared the percentage of familial vs. sporadic lupus and clinical characteristics of the two forms. Results: All the patients are females, aged between 18 and 43 years. The highest percentage of patients resides in the central region of Saudi Arabia (34%). The origin of the big family or tribe also most commonly occurs in the central region (34%). Data analysis results in 27.7% of patients with familial form of SLE. Sporadic form is found in 72.3% of patients. Consanguinity between patients’ parents is noticed in both familial form (61.5%) and sporadic form (58.8%). Clinical manifestations are similar between patients with familial and sporadic form. Conclusion: Our results show a high percentage of familial lupus among Saudi patients. More research is required in order to estimate the inheritance pattern of familial SLE and involvement of genetic and environmental factors. 展开更多
关键词 SLE LUPUS familial SAUDI ARABIA genetics
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Genetic Determination and Selection of Sugarcane Families
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作者 Shiyun TANG Rongzhong YANG +8 位作者 Lunwang WANG Baoqing ZHANG Yuchi DENG Cuifang YANG Shah ZHOU Wu XIAN Fang TAN Hongwei TAN Litao YANG 《Agricultural Science & Technology》 CAS 2017年第1期5-11,共7页
Sugarcane family evaluation on 108 hybridized combinations generated during 2013-2014 was conducted by measuring the main traits of plant and ratoon crops. Stalk height, stalk diameter, stalk number per stool and brix... Sugarcane family evaluation on 108 hybridized combinations generated during 2013-2014 was conducted by measuring the main traits of plant and ratoon crops. Stalk height, stalk diameter, stalk number per stool and brix were investigated in both plant cane and ratoon cane, while stalk weight per stool and brix weight per stool were measured only in plant cane. Genetic variation and genetic parameters of all traits were analyzed, and the families were evaluated based on comprehensive index method. The results showed that the stalk height of both plant and ratoon, stalk diameter of both plant and ratoon, stalk number per stool of plant, brix of both plant and ratoon, stalk weight per stool and brix weight per stool were sig- nificantly different among the families. Stalk height, stalk diameter, stalk number per stool of plant crop showed higher level of broad-sense heritability, genetic variation coefficient and relative genetic advance than those in ratoon crop. But there were no significant differences in broad-sense heritability, genetic variation coefficient and relative genetic advance of brix between plant and ratoon crops. Analysis of phenotypic and genotypic correlation showed that stalk weight per stool was significantly correlated with brix weight per stool, Fifteen elite families including Zhanzhe 74-141× CP72-1210, Guitang 05-3081×Yuetang 91-976, Yunzhe 02-588×ROC22, Funong 39× Guitang 03-1229, Guitang 02-901×Guitang 03-2357, Guitang 05-2743×Guitang 03- 1229, Guitang 92-66×ROC22, Dezhe 93-88×ROC22, Guitang 05-3445×Guitang 03- 2309, Yuetang 00-319×CP72-1210, Guitang 03-3089×ROC22, Yuetang 91-976×CP84- 1198, Yuefu 90-95 ×CP72-1210, Yunzhe 99-601×Guitang 00-122, Yuetang 00-236× ROC22 were selected based on comprehensive index method, and stalk weight per stool and brix weight per stool showed greater genetic gain. The families selected based on comprehensive index were not completely the same as the families selected by brix weight per stool, the rank correlation coefficient of the families selected based on comprehensive index and brix weight per stool was 0.748 (P〈0.01). 展开更多
关键词 Sugamane FAMILY genetic parameter Index selection
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Seedling Cultivation Techniques and Genetic Variation in Growth Traits and Their Relation- ships to Toona Ciliata Families 被引量:1
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作者 Shijun Wu Jianmin Xu +3 位作者 Guangyou Li Chao Han Yang Hu Xinxian Hu 《林学研究进展(中英文版)》 2014年第1期1-6,共6页
关键词 苗木培育技术 生长性状 毛红椿 家庭 遗传变异 栽培 方差分析表 变异系数
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The interaction of genetics and environmental toxicants in amyotrophic lateral sclerosis:results from animal models
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作者 Roger B.Sher 《Neural Regeneration Research》 SCIE CAS CSCD 2017年第6期902-905,共4页
Amyotrophic lateral sclerosis(ALS) is a devastating neurodegenerative disease that results in the progressive death of motor neurons, leading to paralysis and eventual death. There is presently no cure for ALS, and ... Amyotrophic lateral sclerosis(ALS) is a devastating neurodegenerative disease that results in the progressive death of motor neurons, leading to paralysis and eventual death. There is presently no cure for ALS, and only two drugs are available, neither of which provide significant extension of life. The wide variation in onset and progression of the disease, both in sporadic and even in strongly penetrant monogenic familial forms of ALS, indicate that in addition to background genetic variation impacting the disease process, environmental exposures are likely contributors. Epidemiological evidence worldwide implicates exposures to bacterial toxins, heavy metals, pesticides, and trauma as probable environmental factors. Here, we review current advances in gene-environment interactions in ALS animal models. We report our recent discoveries in a zebrafish model of ALS in relation to exposure to the cyanobacterial toxin BMAA, and discuss several results from mouse models that show interactions with exposure to mercury and statin drugs, both leading to acceleration of the disease process. The increasing research into this combinatorial gene-environment process is just starting, but shows early promise to uncover the underlying biochemical pathways that instigate the initial motor neuron defects and lead to their rapidly progressive dysfunction. 展开更多
关键词 amyotrophic genetics paralysis familial progressive progression likely pesticides biochemical devastating
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Genetic Variation in Growth Traits of Toonaciliata Families in Guangdong Province
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《林学研究进展(中英文版)》 2015年第1期5-10,共6页
The height and diameter at breast height were assessed for 173 Toona ciliata families at age 18 months. Analysis of varianceshowed that there were highly significant differences on height and diameter at breast height... The height and diameter at breast height were assessed for 173 Toona ciliata families at age 18 months. Analysis of varianceshowed that there were highly significant differences on height and diameter at breast height at Xinhui with 4.60 to 15.08 of Fvalue, indicating the family and replicate could affect the growth. The significant differences were also found on height anddiameter at breast height among provennances and replicates, however there was no significant differences on diameter at breastheight among families at Liangping, indicating the nearly growth speed on diameter at breast height. The coefficient of geneticvariation of height and diameter at breast height were 42.19% and 44.89% at Xinhui while those were 42.10% and 44.23% atLiangping. Heritabilities were were 0.88 for height, 0.90 for diameter at breast height at Xinhui and 0.97 for height, 0.37 fordiameter at breast height at Liangping. Family No. 169, 143, 154, 149 and 153 had significantly slowest growth whereas familyNo. 8, 1, 4, 116 and 39 were the higher growing at Xinhui. Family No. 134, 11, 86, 121 and 43 had significantly slowest growthwhereas family No. 123, 24, 89, 105 and 51 were the higher growing on height at Liangping. Furthermore, the mean values ofheight were nearly in two sites, however the diameter at breast height at Xinhui were bigger than Lianping probably due to theinsect pest. 展开更多
关键词 genetIC VARIATION T. Ciliata FAMILY GROWTH TRAITS
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