Searching for high-performance thermoelectric(TE)materials in the paradigm of narrow-bandgap semiconductors is hampered by a bottleneck.Here we report on the discovery of metallic compounds,TiFe_(x)Cu_(2x−1)Sb and TiF...Searching for high-performance thermoelectric(TE)materials in the paradigm of narrow-bandgap semiconductors is hampered by a bottleneck.Here we report on the discovery of metallic compounds,TiFe_(x)Cu_(2x−1)Sb and TiFe1.33Sb,showing the thermopower exceeding many TE semiconductors and the dimensionless figure of merits zTs comparable with the state-of-the-art TE materials.A quasi-linear temperature(T)dependent electrical resistivity in 2–700 K and the logarithmic T-dependent electronic specific heat at low temperature coexist with the high thermopower,highlighting the strong intercoupling of the non-Fermi-liquid(NFL)quantum critical behavior of electrons with TE transports.Electronic structure analysis reveals a competition between the antiferromagnetic(AFM)ordering and Kondo-like spin compensation as well as a parallel two-channel Kondo effect.The T-dependent magnetic susceptibility agrees with the quantum critical scenario of strong local correlation.Our work demonstrates the correlation among high TE performance,NFL quantum criticality,and magnetic fluctuation,which opens up directions for future research.展开更多
Apparently balanced chromosomal structural rearrangements are known to cause male infertility and account for approximately 1%of azoospermia or severe oligospermia.However,the underlying mechanisms of pathogenesis and...Apparently balanced chromosomal structural rearrangements are known to cause male infertility and account for approximately 1%of azoospermia or severe oligospermia.However,the underlying mechanisms of pathogenesis and etiologies are still largely unknown.Herein,we investigated apparently balanced interchromosomal structural rearrangements in six cases with azoospermia/severe oligospermia to comprehensively identify and delineate cryptic structural rearrangements and the related copy number variants.In addition,high read-depth genome sequencing(GS)(30-fold)was performed to investigate point mutations causative of male infertility.Mate-pair GS(4-fold)revealed additional structural rearrangements and/or copy number changes in 5 of 6 cases and detected a total of 48 rearrangements.Overall,the breakpoints caused truncations of 30 RefSeq genes,five of which were associated with spermatogenesis.Furthermore,the breakpoints disrupted 43 topological-associated domains.Direct disruptions or potential dysregulations of genes,which play potential roles in male germ cell development,apoptosis,and spermatogenesis,were found in all cases(n=6).In addition,high read-depth GS detected dual molecular findings in case MI6,involving a complex rearrangement and two point mutations in the gene DNAH1.Overall,our study provided the molecular characteristics of apparently balanced interchromosomal structural rearrangements in patients with male infertility.We demonstrated the complexity of chromosomal structural rearrangements,potential gene disruptions/dysregulation and single-gene mutations could be the contributing mechanisms underlie male infertility.展开更多
Objectives The predisposition of intracranial atherosclerotic disease(ICAD)to East Asians over Caucasians infers a genetic basis which,however,remains largely unknown.Higher prevalence of vascular risk factors(VRFs)in...Objectives The predisposition of intracranial atherosclerotic disease(ICAD)to East Asians over Caucasians infers a genetic basis which,however,remains largely unknown.Higher prevalence of vascular risk factors(VRFs)in Chinese over Caucasian patients who had a stroke,and shared risk factors of ICAD with other stroke subtypes indicate genes related to VRFs and/or other stroke subtypes may also contribute to ICAD.Methods Unrelated symptomatic patients with ICAD were recruited for genome sequencing(GS,60-fold).Rare and potentially deleterious single-nucleotide variants(SNVs)and small insertions/deletions(InDels)were detected in genome-wide and correlated to genes related to VRFs and/or other stroke subtypes.Rare aneuploidies,copy number variants(CNVs)and chromosomal structural rearrangements were also investigated.Lastly,candidate genes were used for pathway and gene ontology enrichment analysis.Results Among 92 patients(mean age at stroke onset 61.0±9.3 years),GS identified likely ICAD-associated rare genomic variants in 54.3%(50/92)of patients.Forty-eight patients(52.2%,48/92)had 59 rare SNVs/InDels reported or predicted to be deleterious in genes related to VRFs and/or other stroke subtypes.None of the 59 rare variants were identified in local subjects without ICAD(n=126).31 SNVs/InDels were related to conventional VRFs,and 28 were discovered in genes related to other stroke subtypes.Our study also showed that rare CNVs(n=7)and structural rearrangement(a balanced translocation)were potentially related to ICAD in 8.7%(8/92)of patients.Lastly,candidate genes were significantly enriched in pathways related to lipoprotein metabolism and cellular lipid catabolic process.Conclusions Our GS study suggests a role of rare genomic variants with various variant types contributing to the development of ICAD in Chinese patients.展开更多
基金supported by the National Key Research and Development Program of China(2018YFA0702100)the National Natural Science Foundation of China(52272226,U21A2054,and 52072234).
基金This work was supported by the National Key Research and Development Program of China(Nos.2018YFA0702100 and 2019YFA0704901)National Natural Science Foundation of China(Grant Nos.92163212,51632005,U21A2054,52072234,and 51772186)+3 种基金W.Z.also acknowledges the support from the Guangdong Innovation Research Team Project(No.2017ZT07C062)Guangdong Provincial Key-Lab program(No.2019B030301001)Shenzhen Municipal Key-Lab program(ZDSYS20190902092905285)the Centers for Mechanical Engineering Research and Education at MIT and Southern University of Science and Technology,China.Computing resources were supported by the Center for Computational Science and Engineering at the Southern University of Science and Technology.We thank Dr.D.C.Wu at Thermo Fisher Scientific Company for assistance in performing atom-resolved EDS maps.
文摘Searching for high-performance thermoelectric(TE)materials in the paradigm of narrow-bandgap semiconductors is hampered by a bottleneck.Here we report on the discovery of metallic compounds,TiFe_(x)Cu_(2x−1)Sb and TiFe1.33Sb,showing the thermopower exceeding many TE semiconductors and the dimensionless figure of merits zTs comparable with the state-of-the-art TE materials.A quasi-linear temperature(T)dependent electrical resistivity in 2–700 K and the logarithmic T-dependent electronic specific heat at low temperature coexist with the high thermopower,highlighting the strong intercoupling of the non-Fermi-liquid(NFL)quantum critical behavior of electrons with TE transports.Electronic structure analysis reveals a competition between the antiferromagnetic(AFM)ordering and Kondo-like spin compensation as well as a parallel two-channel Kondo effect.The T-dependent magnetic susceptibility agrees with the quantum critical scenario of strong local correlation.Our work demonstrates the correlation among high TE performance,NFL quantum criticality,and magnetic fluctuation,which opens up directions for future research.
基金supported by the National Natural Science Foundation of China(No.31801042)the Health and Medical Research Fund(No.04152666 and No.07180576)General Research Fund(No.14115418),and Direct Grant(No.2020.052).
文摘Apparently balanced chromosomal structural rearrangements are known to cause male infertility and account for approximately 1%of azoospermia or severe oligospermia.However,the underlying mechanisms of pathogenesis and etiologies are still largely unknown.Herein,we investigated apparently balanced interchromosomal structural rearrangements in six cases with azoospermia/severe oligospermia to comprehensively identify and delineate cryptic structural rearrangements and the related copy number variants.In addition,high read-depth genome sequencing(GS)(30-fold)was performed to investigate point mutations causative of male infertility.Mate-pair GS(4-fold)revealed additional structural rearrangements and/or copy number changes in 5 of 6 cases and detected a total of 48 rearrangements.Overall,the breakpoints caused truncations of 30 RefSeq genes,five of which were associated with spermatogenesis.Furthermore,the breakpoints disrupted 43 topological-associated domains.Direct disruptions or potential dysregulations of genes,which play potential roles in male germ cell development,apoptosis,and spermatogenesis,were found in all cases(n=6).In addition,high read-depth GS detected dual molecular findings in case MI6,involving a complex rearrangement and two point mutations in the gene DNAH1.Overall,our study provided the molecular characteristics of apparently balanced interchromosomal structural rearrangements in patients with male infertility.We demonstrated the complexity of chromosomal structural rearrangements,potential gene disruptions/dysregulation and single-gene mutations could be the contributing mechanisms underlie male infertility.
基金This study is funded by Kwok Tak Seng Centre for Stroke Research and Intervention,the National Natural Science Foundation of China(31801042)the Health and Medical Research Fund(04152666 and 07180576)+1 种基金2018 Shenzhen Virtue University Park Laboratory Support Special Fund(YFJGJS1.0)for Key Laboratory for Regenerative MedicineMinistry of Education(Shenzhen Base)and The Chinese University of Hong Kong Direct Grant(2019.051 and 2019.033).
文摘Objectives The predisposition of intracranial atherosclerotic disease(ICAD)to East Asians over Caucasians infers a genetic basis which,however,remains largely unknown.Higher prevalence of vascular risk factors(VRFs)in Chinese over Caucasian patients who had a stroke,and shared risk factors of ICAD with other stroke subtypes indicate genes related to VRFs and/or other stroke subtypes may also contribute to ICAD.Methods Unrelated symptomatic patients with ICAD were recruited for genome sequencing(GS,60-fold).Rare and potentially deleterious single-nucleotide variants(SNVs)and small insertions/deletions(InDels)were detected in genome-wide and correlated to genes related to VRFs and/or other stroke subtypes.Rare aneuploidies,copy number variants(CNVs)and chromosomal structural rearrangements were also investigated.Lastly,candidate genes were used for pathway and gene ontology enrichment analysis.Results Among 92 patients(mean age at stroke onset 61.0±9.3 years),GS identified likely ICAD-associated rare genomic variants in 54.3%(50/92)of patients.Forty-eight patients(52.2%,48/92)had 59 rare SNVs/InDels reported or predicted to be deleterious in genes related to VRFs and/or other stroke subtypes.None of the 59 rare variants were identified in local subjects without ICAD(n=126).31 SNVs/InDels were related to conventional VRFs,and 28 were discovered in genes related to other stroke subtypes.Our study also showed that rare CNVs(n=7)and structural rearrangement(a balanced translocation)were potentially related to ICAD in 8.7%(8/92)of patients.Lastly,candidate genes were significantly enriched in pathways related to lipoprotein metabolism and cellular lipid catabolic process.Conclusions Our GS study suggests a role of rare genomic variants with various variant types contributing to the development of ICAD in Chinese patients.
