PGC-1alpha/beta upregulation is associated with improved oxidative phosphorylation in cells harboring nonsense mtDNA mutations.

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in one of three genes: PKD1 on chromosome 16 accounts for approximately 85% of cases whereas PKD2 on chromosome 4 accounts for approximately 15%. Mutations in the PKD3 gene are rare. All patients present with similar clinical phenotypes, and t...

journal_title：Human molecular genetics

authors： Koptides M,Hadjimichael C,Koupepidou P,Pierides A,Constantinou Deltas C

更新日期：1999-03-01 00:00:00

abstract：:DiGeorge syndrome is a human developmental disorder resulting in hypoplasia of the thymus and parathyroids, and conotruncal heart defects. We recently isolated four genes with zinc finger DNA binding motifs mapping to chromosome 22q11.2 DiGeorge critical region. We now report that one of them, ZNF74 gene, is hemizygou...

journal_title：Human molecular genetics

authors： Aubry M,Demczuk S,Desmaze C,Aikem M,Aurias A,Julien JP,Rouleau GA

更新日期：1993-10-01 00:00:00

abstract：:Genome-wide association studies of colorectal cancer (CRC) have identified a number of common variants associated with modest risk, including rs3802842 at chromosome 11q23.1. Several genes map to this region but rs3802842 does not map to any known transcribed or regulatory sequences. We reasoned, therefore, that rs380...

journal_title：Human molecular genetics

authors： Biancolella M,Fortini BK,Tring S,Plummer SJ,Mendoza-Fandino GA,Hartiala J,Hitchler MJ,Yan C,Schumacher FR,Conti DV,Edlund CK,Noushmehr H,Coetzee SG,Bresalier RS,Ahnen DJ,Barry EL,Berman BP,Rice JC,Coetzee GA,Casey G

更新日期：2014-04-15 00:00:00

abstract：:Neural tube defects (NTDs) are birth defects that can be disabling or lethal and are second in their prevalence after cardiac defects among major human congenital malformations. Spina bifida is a NTD where the spinal cord is dysplastic, and the overlying spinal column is absent. At present, the molecular mechanisms un...

journal_title：Human molecular genetics

authors： Wong RL,Wlodarczyk BJ,Min KS,Scott ML,Kartiko S,Yu W,Merriweather MY,Vogel P,Zambrowicz BP,Finnell RH

更新日期：2008-02-15 00:00:00

abstract：:Schwann cells are the myelinating glia of the peripheral nervous system and dysfunction of these cells causes motor and sensory peripheral neuropathy. The transcription factor SOX10 is critical for Schwann cell development and maintenance, and many SOX10 target genes encode proteins required for Schwann cell function....

journal_title：Human molecular genetics

authors： Fogarty EA,Brewer MH,Rodriguez-Molina JF,Law WD,Ma KH,Steinberg NM,Svaren J,Antonellis A

更新日期：2016-09-15 00:00:00

abstract：:Ciliary trafficking defects underlie the pathogenesis of severe human ciliopathies, including Joubert Syndrome (JBTS), Bardet-Biedl Syndrome, and some forms of retinitis pigmentosa (RP). Mutations in the ciliary protein RPGR (retinitis pigmentosa GTPase regulator) are common causes of RP-associated photoreceptor degen...

journal_title：Human molecular genetics

authors： Rao KN,Zhang W,Li L,Anand M,Khanna H

更新日期：2016-10-15 00:00:00

abstract：:Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by a combination of pigmentary and auditory abnormalities. Approximately 20% of WS2 cases are associated with mutations in the gene encoding microphthalmia-associated transcription factor (MITF). MITF plays a critical role in the develop...

journal_title：Human molecular genetics

authors： Yajima I,Sato S,Kimura T,Yasumoto K,Shibahara S,Goding CR,Yamamoto H

更新日期：1999-08-01 00:00:00

abstract：:Intronic expansion of a hexanucleotide GGGGCC repeat in the chromosome 9 open reading frame 72 (C9ORF72) gene is the major cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. However, the cellular function of the C9ORF72 protein remains unknown. Here, we demonstrate that C9ORF72 regulate...

journal_title：Human molecular genetics

authors： Farg MA,Sundaramoorthy V,Sultana JM,Yang S,Atkinson RA,Levina V,Halloran MA,Gleeson PA,Blair IP,Soo KY,King AE,Atkin JD

更新日期：2014-07-01 00:00:00

abstract：:To further identify novel susceptibility loci of nasopharyngeal carcinoma (NPC), we here extended our previous genome-wide association study (GWAS) by boosting statistical power with larger sample size and validating more SNPs in the ranking list based on the GWAS P-values. The discovery stage consisting of 463,250 SN...

journal_title：Human molecular genetics

authors： Cui Q,Feng QS,Mo HY,Sun J,Xia YF,Zhang H,Foo JN,Guo YM,Chen LZ,Li M,Liu WS,Xu M,Zhou G,He F,Yu X,Jia WH,Liu J,Zeng YX,Bei JX

更新日期：2016-08-15 00:00:00

abstract：:Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting carriers of the fragile X-premutation, who have an expanded CGG repeat in the 5'-UTR of the FMR1 gene. FXTAS is characterized by progressive development of intention tremor, ataxia, parkinsonism and neuropsychologi...

journal_title：Human molecular genetics

authors： Hukema RK,Buijsen RA,Schonewille M,Raske C,Severijnen LA,Nieuwenhuizen-Bakker I,Verhagen RF,van Dessel L,Maas A,Charlet-Berguerand N,De Zeeuw CI,Hagerman PJ,Berman RF,Willemsen R

更新日期：2015-09-01 00:00:00

abstract：:Deficiencies in the complex I (CI; NADH-ubiquinone oxidoreductase) of the respiratory chain are frequent causes of mitochondrial diseases and have been associated with other neurodegenerative disorders, such as Parkinson's disease. The NADH-ubiquinone oxidoreductase 1 alpha subcomplex subunit 5 (NDUFA5) is a nuclear-e...

journal_title：Human molecular genetics

authors： Peralta S,Torraco A,Wenz T,Garcia S,Diaz F,Moraes CT

更新日期：2014-03-15 00:00:00

abstract：:The molecular genetic basis that leads to Lewy Body (LB) pathology in 15-20% of Alzheimer disease cases (LBV/AD) was largely unknown. Alpha-synuclein (SNCA) and Leucine-rich repeat kinase2 (LRRK2) have been implicated in the pathogenesis of Parkinson's disease (PD), the prototype of LB spectrum disorders. We tested th...

journal_title：Human molecular genetics

authors： Linnertz C,Lutz MW,Ervin JF,Allen J,Miller NR,Welsh-Bohmer KA,Roses AD,Chiba-Falek O

更新日期：2014-09-15 00:00:00

abstract：:To assess the relationship between the genotype and phenotype of adult CF patients we have selected from a group of 512 CF patients attending centres in France, all these of greater than 35 years. We have analysed the entire coding sequence of their CFTR genes. The complete genotype was determined in 7 of the 8 patien...

journal_title：Human molecular genetics

authors： Férec C,Verlingue C,Guillermit H,Quéré I,Raguénès O,Feigelson J,Audrézet MP,Moullier P,Mercier B

更新日期：1993-10-01 00:00:00

abstract：:Recent studies suggest that the genome is organized into blocks of haplotypes, and efforts to create a genome-wide haplotype map of single-nucleotide polymorphisms (SNPs) are already underway. Haplotype blocks are defined algorithmically and to date several algorithms have been proposed. However, little is known about...

journal_title：Human molecular genetics

authors： Schulze TG,Zhang K,Chen YS,Akula N,Sun F,McMahon FJ

更新日期：2004-02-01 00:00:00

abstract：:The intraflagellar transport (IFT) machinery containing the IFT-A and IFT-B complexes mediates ciliary protein trafficking. Mutations in the genes encoding the six subunits of the IFT-A complex (IFT43, IFT121, IFT122, IFT139, IFT140, and IFT144) are known to cause skeletal ciliopathies, including cranioectodermal dysp...

journal_title：Human molecular genetics

authors： Takahara M,Katoh Y,Nakamura K,Hirano T,Sugawa M,Tsurumi Y,Nakayama K

更新日期：2018-02-01 00:00:00

abstract：:Genetic and environmental influences are thought to interact in their contribution to the etiology of major neuropsychiatric disorders. One of the best replicated findings obtained in genome-wide association studies are genetic variants in the CACNA1C gene. Here, we used our constitutive heterozygous Cacna1c rat model...

journal_title：Human molecular genetics

authors： Braun MD,Kisko TM,Witt SH,Rietschel M,Schwarting RKW,Wöhr M

更新日期：2019-12-15 00:00:00

abstract：:The FKHR gene, which contains a forkhead DNA-binding motif, is fused to either PAX3 or PAX7 by the t(2;13) or t(1;13) translocation in alveolar rhabdomyosarcoma,respectively. These tumors express chimeric transcripts encoding the N-terminal portion of either PAX protein fused to the C-terminal portion of FKHR. To unde...

journal_title：Human molecular genetics

authors： Davis RJ,Bennicelli JL,Macina RA,Nycum LM,Biegel JA,Barr FG

更新日期：1995-12-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified several common loci contributing to non-obstructive azoospermia (NOA). However, a substantial fraction of NOA heritability remains undefined, especially those low-frequency [defined here as having a minor allele frequency (MAF) between 0.5 and 5%] and rare (MAF be...

journal_title：Human molecular genetics

authors： Ni B,Lin Y,Sun L,Zhu M,Li Z,Wang H,Yu J,Guo X,Zuo X,Dong J,Xia Y,Wen Y,Wu H,Li H,Zhu Y,Ping P,Chen X,Dai J,Jiang Y,Xu P,Du Q,Yao B,Weng N,Lu H,Wang Z,Zhu X,Yang X,Xiong C,Ma H,Jin G,Xu J,Wang

更新日期：2015-10-01 00:00:00

abstract：:The apolipoprotein A5 gene (APOA5 ) has been shown to play an important role in determining plasma triglyceride concentrations in humans. We describe here a novel variant, c.553G>T, in the apolipoprotein A5 gene that is associated with hypertriglyceridemia. In contrast to some other polymorphisms, which occur in non-c...

journal_title：Human molecular genetics

authors： Kao JT,Wen HC,Chien KL,Hsu HC,Lin SW

更新日期：2003-10-01 00:00:00

abstract：:Loss-of-function mutations of the X-chromosome gene UPF3B cause male neurodevelopmental disorders (NDDs) via largely unknown mechanisms. We investigated initially by interrogating a novel synonymous UPF3B variant in a male with absent speech. In silico and functional studies using cell lines derived from this individu...

journal_title：Human molecular genetics

authors： Domingo D,Nawaz U,Corbett M,Espinoza JL,Tatton-Brown K,Coman D,Wilkinson MF,Gecz J,Jolly LA

更新日期：2020-08-29 00:00:00

abstract：:There is considerable uncertainty and debate concerning the application of linkage disequilibrium (LD) mapping in common multifactorial diseases, including the choice of population and the density of the marker map. Previously, it has been shown that, in the large cosmopolitan population of the UK, the established typ...

journal_title：Human molecular genetics

authors： Zavattari P,Lampis R,Mulargia A,Loddo M,Angius E,Todd JA,Cucca F

更新日期：2000-12-12 00:00:00

abstract：:Genetic studies have implicated the neuronal ubiquitin C-terminal hydrolase (UCH) protein UCH-L1 in Parkinson's disease (PD) pathogenesis. Moreover, the function of UCH-L1 may be lost in the brains of PD and Alzheimer's disease patients. We have previously reported that the UCH-L1 polymorphic variant S18Y, potentially...

journal_title：Human molecular genetics

authors： Xilouri M,Kyratzi E,Pitychoutis PM,Papadopoulou-Daifoti Z,Perier C,Vila M,Maniati M,Ulusoy A,Kirik D,Park DS,Wada K,Stefanis L

更新日期：2012-02-15 00:00:00

abstract：:Mutations in GDAP1 lead to recessively or dominantly inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT), indicating that GDAP1 is essential for the viability of cells in the peripheral nervous system. GDAP1 contains domains characteristic of glutathione-S-transferases (GSTs), is located in the outer ...

journal_title：Human molecular genetics

authors： Noack R,Frede S,Albrecht P,Henke N,Pfeiffer A,Knoll K,Dehmel T,Meyer Zu Hörste G,Stettner M,Kieseier BC,Summer H,Golz S,Kochanski A,Wiedau-Pazos M,Arnold S,Lewerenz J,Methner A

更新日期：2012-01-01 00:00:00

abstract：:The human chr15q11-q13 imprinted cluster is linked to several disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes. Recently, disease modeling approaches based on induced pluripotent stem cells (iPSCs) have been used to study these syndromes. A concern regarding the use of these cells for imprinted dise...

journal_title：Human molecular genetics

authors： Pólvora-Brandão D,Joaquim M,Godinho I,Aprile D,Álvaro AR,Onofre I,Raposo AC,Pereira de Almeida L,Duarte ST,da Rocha ST

更新日期：2018-12-01 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) is a lethal, muscle degenerative disease causing premature death of affected children. DMD is characterized by mutations in the dystrophin gene that result in a loss of the dystrophin protein. Loss of dystrophin causes an associated reduction in proteins of the dystrophin glycoprotein...

journal_title：Human molecular genetics

authors： Fontelonga TM,Jordan B,Nunes AM,Barraza-Flores P,Bolden N,Wuebbles RD,Griner LM,Hu X,Ferrer M,Marugan J,Southall N,Burkin DJ

更新日期：2019-07-01 00:00:00

abstract：:The clearest example of genomic imprinting in humans comes from studies of the Angelman (AS) and Prader-Willi (PWS) syndromes. Although these are clinically distinct disorders, both typically result from a loss of the same chromosomal region, 15q11-q13. AS usually results from either a maternal deletion of this region...

journal_title：Human molecular genetics

authors： Glenn CC,Nicholls RD,Robinson WP,Saitoh S,Niikawa N,Schinzel A,Horsthemke B,Driscoll DJ

更新日期：1993-09-01 00:00:00

abstract：:Mutations in ATP13A2 (PARK9) cause Kufor-Rakeb syndrome (KRS) characterized by juvenile-onset parkinsonism, pyramidal signs and dementia. PARK9 belongs to type 5 P-type ATPase with its putative function as a cation transporter. Loss of PARK9 leads to lysosomal dysfunction and subsequent α-synuclein (α-Syn) accumulatio...

journal_title：Human molecular genetics

authors： Tsunemi T,Krainc D

更新日期：2014-06-01 00:00:00

abstract：:Biased segregation of mitochondrial DNA variants has been widely documented, but little was known about its molecular basis. We set out to test the hypothesis that altering the balance between mitochondrial fusion and fission could influence the segregation of mutant and wild-type mtDNA variants, because it would modi...

journal_title：Human molecular genetics

authors： Malena A,Loro E,Di Re M,Holt IJ,Vergani L

更新日期：2009-09-15 00:00:00

abstract：:Many congenital myasthenic syndromes (CMS) are associated with mutations in the genes encoding the acetylcholine receptor (AChR), an oligomeric protein with the structure alpha(2)betadelta epsilon. AChR deficiency is frequently due to homozygous or heteroallelic mutations in the AChR epsilon subunit, most of which cau...

journal_title：Human molecular genetics

authors： Ealing J,Webster R,Brownlow S,Abdelgany A,Oosterhuis H,Muntoni F,Vaux DJ,Vincent A,Beeson D

更新日期：2002-11-15 00:00:00

abstract：:A polyglutamine expansion within the ataxin-1 protein (ATXN1) underlies spinocerebellar ataxia type-1 (SCA1), a neurological disorder mainly characterized by ataxia and cerebellar deficits. In SCA1, both loss and gain of ATXN1 biological functions contribute to cerebellar pathogenesis. However, the critical ATXN1 func...

journal_title：Human molecular genetics

authors： Sánchez I,Balagué E,Matilla-Dueñas A

更新日期：2016-09-15 00:00:00