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一例X染色体结构重排导致DMD疾病 被引量:2
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作者 胡浩 杨晓文 +11 位作者 程德华 李秀蓉 何文斌 胡晓 高伯笛 赵晓蒙 张前军 杜娟 刘激扬 卢光琇 林戈 李汶 《遗传》 CAS CSCD 北大核心 2023年第1期88-95,共8页
假肥大型肌营养不良(Duchenne/Becker muscular dystrophy,DMD/BMD)是一种最常见的进行性肌营养不良疾病,呈X-连锁隐性遗传,主要由DMD基因的缺失、重复及点突变所致,极少数病例是由于染色体结构重排破坏了DMD基因而引起疾病的发生。本... 假肥大型肌营养不良(Duchenne/Becker muscular dystrophy,DMD/BMD)是一种最常见的进行性肌营养不良疾病,呈X-连锁隐性遗传,主要由DMD基因的缺失、重复及点突变所致,极少数病例是由于染色体结构重排破坏了DMD基因而引起疾病的发生。本文报告了1例经多重连接探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)和下一代测序检测后原因未明的、具有典型症状的DMD患者。采用核型分析、FISH分析及三代测序、Sanger测序综合分析发现,患者存在母源性的X染色体臂间倒位(Chr.X:g.[31939463–31939465del;31939466–131765063 inv;131765064–131765067del])半合子变异。由于该变异破坏了DMD基因和HS6ST2基因,因此推测该变异是患者发病的遗传学病因。患者表现肌无力等典型的DMD症状,没有明显的Paganini-Miozzo综合征相关症状。本病例的明确诊断,提示结构重排破坏DMD基因也是导致DMD重要原因之一;常规遗传学检测阴性的患者应考虑核型分析、FISH验证等结构重排变异检测技术,通过三代测序技术能确定大概的重排断点位置,Sanger测序可明确断点区域序列。本病例报告通过明确的遗传学诊断为该患者所在家庭进行生殖干预、降低再生育风险提供了诊疗基础。 展开更多
关键词 DMD 结构重排 核型分析 FISH 断点分析
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DRC3 is an assembly adapter of the nexin-dynein regulatory complex functional components during spermatogenesis in humans and mice
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作者 Shushu Zhou Shimin Yuan +7 位作者 Jintao Zhang Lanlan Meng Xin Zhang Siyu Liu guangxiu lu Ge Lin Mingxi Liu Yue-Qiu Tan 《Signal Transduction and Targeted Therapy》 SCIE CSCD 2023年第2期351-354,共4页
Dear Editor,Male subfertility,a multifactorial disease affecting~7%of the global male population,is usually caused by abnormalities in sperm flagella.The flagella and motile cilia have similar“9+2”axonemes and are e... Dear Editor,Male subfertility,a multifactorial disease affecting~7%of the global male population,is usually caused by abnormalities in sperm flagella.The flagella and motile cilia have similar“9+2”axonemes and are evolutionarily conserved,being widely distributed in bacteria,archaea and eukaryotes1.Cilia defects also lead to primary ciliary dyskinesia(PCD),which affects approximately 1/10,000 individuals worldwide. 展开更多
关键词 FERTILITY functional ASSEMBLY
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Human umbilical cord mesenchymal stem cells for psoriasis:a phase 1/2a,single-arm study 被引量:4
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作者 Lamei Cheng Siqi Wang +18 位作者 Cong Peng Xiao Zou Chao Yang Hua Mei Chuang Li Xian Su Na Xiao Qi Ouyang Mi Zhang Qiaolin Wang Yan luo Minxue Shen Qun Qin Honglin Wang Wu Zhu guangxiu lu Ge Lin Yehong Kuang Xiang Chen 《Signal Transduction and Targeted Therapy》 SCIE CSCD 2022年第9期3512-3522,共11页
Psoriasis is a common,chronic immune-mediated systemic disease that had no effective and durable treatment.Mesenchymal stem cells(MSCs)have immunomodulatory properties.Therefore,we performed a phase 1/2a,single-arm cl... Psoriasis is a common,chronic immune-mediated systemic disease that had no effective and durable treatment.Mesenchymal stem cells(MSCs)have immunomodulatory properties.Therefore,we performed a phase 1/2a,single-arm clinical trial to evaluate the safety and efficacy of human umbilical cord-derived MSCs(UMSCs)in the treatment of psoriasis and to preliminarily explore the possible mechanisms.Seventeen patients with psoriasis were enrolled and received UMsC infusions.Adverse events,laboratory parameters,PASl,and PGA were analyzed.We did not observe obvious side effects during the treatment and 6-month follow-up.A total of 47.1%(8/17)of the psoriasis patients had at least 40%improvement in the PASl score,and 17.6%(3/17)had no sign of disease or minimal disease based on the PGA score.And the efficiency was 25%(2/8)for males and 66.7%(6/9)for females.After UMSC transplantation(UMSCT),the frequencies of Tregs and CD4^(+)memory T cells were significantly increased,and the frequencies of T helper(Th)17 and CD4^(+)naive T cells were significantly decreased in peripheral blood(PB)of psoriasis patients.And all responders showed significant increases in Tregs and CD4^(+)memory T cells,and significant decreases in Th17 cells and serum IL-17 level after UMsCT.And baseline level of Tregs in responders were significantly lower than those in nonresponders.In conclusion,allogeneic UMSCT is safe and partially effective in psoriasis patients,and level of Tregs may be used as a potent biomarker to predict the clinical efficacy of UMSCT.Trial registration Clinical Trials NCT03765957. 展开更多
关键词 PSORIASIS INFUSION PHASE
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Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect 被引量:2
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作者 Lanlan Meng Chaofeng Tu +2 位作者 guangxiu lu Ge Lin Yueqiu Tan 《Science China(Life Sciences)》 SCIE CAS CSCD 2019年第1期144-147,共4页
Dear Editor, Microcephalic osteodysplastic primordial dwarfism type Ⅱ (MOPD Ⅱ )is characterized by developmental retardation, wherein the affected individuals usually present with intrauterine growth retardation and... Dear Editor, Microcephalic osteodysplastic primordial dwarfism type Ⅱ (MOPD Ⅱ )is characterized by developmental retardation, wherein the affected individuals usually present with intrauterine growth retardation and preterm birth (Majewski et al.,1982;Willems et al.,2010).This leads to an average weight of <1,500g at birth and extremely restricted postnatal growth (Hall et al.,2004;Rauch,2011).Clinical manifestations ofMOPD Ⅱ include microcephaly,disproportionately short stature,mild skeletal dysplasia,unusual facial features including a prominent nose,prominent eyes in infancy and early childhood,some affected individuals exhibit slightly reduced intellectual development and cerebral vascular malformations (Willems et al.,2010;Li et al.,2015;Sam et al.,2015). 展开更多
关键词 EDITOR MILD SAM
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