A Drosophila model of GSS syndrome suggests defects in active zones are responsible for pathogenesis of GSS syndrome.

abstract：:The unconventional myosin genes Myo15, Myo6 and Myo7a are essential for hearing in both humans and mice. Despite the expression of each gene in multiple organs, mutations result in identifiable phenotypes only in auditory or ocular sensory organs. The pirouette (pi) mouse also exhibits deafness and an inner ear pathol...

journal_title：Human molecular genetics

authors： Karolyi IJ,Probst FJ,Beyer L,Odeh H,Dootz G,Cha KB,Martin DM,Avraham KB,Kohrman D,Dolan DF,Raphael Y,Camper SA

更新日期：2003-11-01 00:00:00

abstract：:Following a screen for neuromuscular mouse mutants, we identified ostes, a novel N-ethyl N-nitrosourea-induced mouse mutant with muscle atrophy. Genetic and biochemical evidence shows that upregulation of the novel, uncharacterized transient receptor potential polycystic (TRPP) channel PKD1L2 (polycystic kidney diseas...

journal_title：Human molecular genetics

authors： Mackenzie FE,Romero R,Williams D,Gillingwater T,Hilton H,Dick J,Riddoch-Contreras J,Wong F,Ireson L,Powles-Glover N,Riley G,Underhill P,Hough T,Arkell R,Greensmith L,Ribchester RR,Blanco G

更新日期：2009-10-01 00:00:00

abstract：:Coronary heart disease (CHD) is the leading cause of death worldwide. Mitochondrial genetic determinant for the development of CHD remains poorly explored. We report there the clinical, genetic, molecular and biochemical characterization of a four-generation Chinese family with maternally inherited CHD. Thirteen of 32...

journal_title：Human molecular genetics

authors： Jia Z,Wang X,Qin Y,Xue L,Jiang P,Meng Y,Shi S,Wang Y,Qin Mo J,Guan MX

更新日期：2013-10-15 00:00:00

abstract：:To understand the cause of Parkinson's disease (PD), it is important to determine the functional interactions between factors linked to the disease. Parkin is associated with autosomal recessive early-onset PD, and controls the transcription of PGC-1α, a master regulator of mitochondrial biogenesis. These two factors ...

journal_title：Human molecular genetics

authors： Zheng L,Bernard-Marissal N,Moullan N,D'Amico D,Auwerx J,Moore DJ,Knott G,Aebischer P,Schneider BL

更新日期：2017-02-01 00:00:00

abstract：:Mitochondria undergo continuous cycles of fusion and fission in response to physiopathological stimuli. The key player in mitochondrial fission is dynamin-related protein 1 (DRP1), a cytosolic protein encoded by dynamin 1-like (DNM1L) gene, which relocalizes to the outer mitochondrial membrane, where it assembles, oli...

journal_title：Human molecular genetics

authors： Longo F,Benedetti S,Zambon AA,Sora MGN,Di Resta C,De Ritis D,Quattrini A,Maltecca F,Ferrari M,Previtali SC

更新日期：2020-01-15 00:00:00

abstract：:The most common form of hereditary haemochromatosis is an adult-onset condition usually associated with the HFE C282Y/C282Y genotype. The phenotypic expression of this genotype is heterogeneous and depends on a complex interplay of genetic and non-genetic factors. The aim of the present study was to determine if mutat...

journal_title：Human molecular genetics

authors： Le Gac G,Scotet V,Ka C,Gourlaouen I,Bryckaert L,Jacolot S,Mura C,Férec C

更新日期：2004-09-01 00:00:00

abstract：:Multiple endocrine neoplasia type 2 (MEN 2) is a dominantly inherited cancer syndrome which affects thyroid C cells, and with variable frequency, the adrenal medulla, parathyroid and enteric autonomic ganglia. The syndrome is due to germline mutation in the receptor tyrosine kinase gene, RET. We have recently shown an...

journal_title：Human molecular genetics

authors： Gardner E,Mulligan LM,Eng C,Healey CS,Kwok JB,Ponder MA,Ponder BA

更新日期：1994-10-01 00:00:00

abstract：:The high affinity receptor for IgE (Fc epsilon RI) has a central role in mast cell degranulation and IgE mediated allergy. A systematic search through the coding regions of the beta subunit of Fc epsilon RI (Fc epsilon RI-beta) has identified a novel coding polymorphism in exon seven. An adenine to guanine substitutio...

journal_title：Human molecular genetics

authors： Hill MR,Cookson WO

更新日期：1996-07-01 00:00:00

abstract：:Three distinct regions, designated AZFa, b and c from proximal to distal Yq, are required for normal spermato-genesis in humans. Deletions involving AZFa (deletion interval 5C/D) seem to occur less frequently in infertile men and to be associated with a more severe testicular phenotype, with almost complete absence of...

journal_title：Human molecular genetics

authors： Foresta C,Ferlin A,Moro E

更新日期：2000-05-01 00:00:00

abstract：:Seventeen families with Emery-Dreifuss muscular dystrophy (EDMD) have been studied both by DNA sequencing and by emerin protein expression. Fourteen had mutations in the X-linked emerin gene, while three showed evidence of autosomal inheritance. Twelve of the 14 emerin mutations caused early termination of translation...

journal_title：Human molecular genetics

authors： Manilal S,Recan D,Sewry CA,Hoeltzenbein M,Llense S,Leturcq F,Deburgrave N,Barbot J,Man N,Muntoni F,Wehnert M,Kaplan J,Morris GE

更新日期：1998-05-01 00:00:00

abstract：:What would define real progress in the field of deafness research in fundamental and medical terms? In fundamental terms, progress would be measured by an improvement in our knowledge of the development and physiology of the ear. In medical terms, progress would lead to the division of the broad category of hearing de...

journal_title：Human molecular genetics

authors： Kalatzis V,Petit C

更新日期：1998-01-01 00:00:00

abstract：:We have defined unexpectedly extensive copy number variation at the human anti-microbial alpha-defensin genes DEFA1 and DEFA3, encoding human neutrophil peptides HNP-1, HNP-2 and HNP-3. There was variation in both number and position of DEFA1/DEFA3 genes in arrays of 19 kb tandem repeats on 8p23.1, so that the DEFA1 a...

journal_title：Human molecular genetics

authors： Aldred PM,Hollox EJ,Armour JA

更新日期：2005-07-15 00:00:00

abstract：:Fragile X syndrome, a common cause of intellectual disability and autism, is due to mutational silencing of the FMR1 gene leading to the absence of its gene product, fragile X mental retardation protein (FMRP). FMRP is a selective RNA binding protein owing to two central K-homology domains and a C-terminal arginine-gl...

journal_title：Human molecular genetics

authors： Myrick LK,Hashimoto H,Cheng X,Warren ST

更新日期：2015-03-15 00:00:00

abstract：:Maintenance of an intact mitochondrial genome is essential for oxidative phosphorylation in all eukaryotes. Depletion of mitochondrial genome copy number can have severe pathological consequences due to loss of respiratory capacity. In Saccharomyces cerevisiae, several bifunctional metabolic enzymes have been shown to...

journal_title：Human molecular genetics

authors： Iacovino M,Granycome C,Sembongi H,Bokori-Brown M,Butow RA,Holt IJ,Bateman JM

更新日期：2009-01-01 00:00:00

abstract：:Aiming to identify novel genetic variants and to confirm previously identified genetic variants associated with bone mineral density (BMD), we conducted a three-stage genome-wide association (GWA) meta-analysis in 27 061 study subjects. Stage 1 meta-analyzed seven GWA samples and 11 140 subjects for BMDs at the lumbar...

journal_title：Human molecular genetics

authors： Zhang L,Choi HJ,Estrada K,Leo PJ,Li J,Pei YF,Zhang Y,Lin Y,Shen H,Liu YZ,Liu Y,Zhao Y,Zhang JG,Tian Q,Wang YP,Han Y,Ran S,Hai R,Zhu XZ,Wu S,Yan H,Liu X,Yang TL,Guo Y,Zhang F,Guo YF,Chen Y,Chen X,Ta

更新日期：2014-04-01 00:00:00

abstract：:The positions of DNA replication initiation regions (IRs) at three human trinucleotide repeat (TNR) disease loci were examined in order to characterize the role played by IRs in explaining the known locus-specific variation in TNR instability levels. Using three different normal cell lines, candidate IRs were identifi...

journal_title：Human molecular genetics

authors： Nenguke T,Aladjem MI,Gusella JF,Wexler NS,Arnheim N,Venezuela HD Project.

更新日期：2003-05-01 00:00:00

abstract：:Various small molecule pharmacologic agents with different known functions produce similar outcomes in diverse Mendelian and complex disorders, suggesting that they may induce common cellular effects. These molecules include histone deacetylase inhibitors, 4-phenylbutyrate (4PBA) and trichostatin A, and two small mole...

journal_title：Human molecular genetics

authors： Brose RD,Shin G,McGuinness MC,Schneidereith T,Purvis S,Dong GX,Keefer J,Spencer F,Smith KD

更新日期：2012-10-01 00:00:00

abstract：:The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs) in the regulatory regions of the apolipoprotein E (APOE) gene modify the well-established epsilon4-associated risk for Alzheimer's disease (AD). Sequencing of the APOE gene regulatory regions revealed four previously reported promo...

journal_title：Human molecular genetics

authors： Belbin O,Dunn JL,Ling Y,Morgan L,Chappell S,Beaumont H,Warden D,Smith DA,Kalsheker N,Morgan K

更新日期：2007-09-15 00:00:00

abstract：:Huntington disease (HD) is an autosomal dominant neurodegenerative disease caused by an expanded CAG trinucleotide repeat in the first exon of the HD gene, which results in a toxic polyglutamine stretch within huntingtin, the protein it encodes. Understanding the normal function of this essential protein is vital to u...

journal_title：Human molecular genetics

authors： Strehlow AN,Li JZ,Myers RM

更新日期：2007-02-15 00:00:00

abstract：:Paraoxonase is an arylesterase enzyme that is expressed in the liver and found in the circulation in association with apoA1 and the high-density lipoprotein, and prevents the accumulation of oxidized lipids in low-density lipoproteins in vitro. Common polymorphisms in genes encoding paraoxonase are established risk fa...

journal_title：Human molecular genetics

authors： Erlich PM,Lunetta KL,Cupples LA,Huyck M,Green RC,Baldwin CT,Farrer LA,MIRAGE Study Group.

更新日期：2006-01-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the growth of renal cysts that ultimately destroy kidney function. Mutations in the PKD1 and PKD2 genes cause ADPKD. Their protein products, polycystin-1 (PC1) and polycystin-2 (PC2) have been proposed to form a calcium-permeable receptor-channel...

journal_title：Human molecular genetics

authors： Parnell SC,Magenheimer BS,Maser RL,Pavlov TS,Havens MA,Hastings ML,Jackson SF,Ward CJ,Peterson KR,Staruschenko A,Calvet JP

更新日期：2018-10-01 00:00:00

abstract：:HTRA2-BETA1 is an SR-like protein that regulates alternative splice site selection in a concentration-dependent manner. Its proper concentration is important as several pathological states are associated with its change. We investigated the mechanism that controls the cellular HTRA2-BETA1 concentration and found it ut...

journal_title：Human molecular genetics

authors： Stoilov P,Daoud R,Nayler O,Stamm S

更新日期：2004-03-01 00:00:00

abstract：:Missense mutations and extra copies of the alpha-Synuclein gene result in Parkinson disease (PD). Human stem and progenitor cells can be expanded from embryonic tissues and provide a source of non-transformed neural cells to explore the effects of these pathogenic mutations specifically in human nervous tissue. We ove...

journal_title：Human molecular genetics

authors： Schneider BL,Seehus CR,Capowski EE,Aebischer P,Zhang SC,Svendsen CN

更新日期：2007-03-15 00:00:00

abstract：:Human cytidine deaminase APOBEC3G and the virion infectivity factor (vif) of the human immunodeficiency virus (HIV) are a pair of antagonistic molecules. In the absence of vif, APOBEC3G induces a high rate of dC to dU mutations in the nascent reverse transcripts of HIV that leads to the degradation of the HIV genome. ...

journal_title：Human molecular genetics

authors： Zhang J,Webb DM

更新日期：2004-08-15 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

abstract：:Intracellular accumulations of mutant, misfolded proteins are major pathological hallmarks of amyotrophic lateral sclerosis (ALS) and related disorders. Recently, mutations in Sigma receptor 1 (SigR1) have been found to cause a form of ALS and frontotemporal lobar degeneration (FTLD). Our goal was to pinpoint alterati...

journal_title：Human molecular genetics

authors： Prause J,Goswami A,Katona I,Roos A,Schnizler M,Bushuven E,Dreier A,Buchkremer S,Johann S,Beyer C,Deschauer M,Troost D,Weis J

更新日期：2013-04-15 00:00:00

abstract：:Spliceosomal Uridine-rich small ribonucleo protein (U snRNP) assembly is an active process mediated by the macromolecular survival motor neuron (SMN) complex. This complex contains the SMN protein and six additional proteins, named Gemin2-7, according to their localization to nuclear structures termed gems. Here, we p...

journal_title：Human molecular genetics

authors： Grimmler M,Otter S,Peter C,Müller F,Chari A,Fischer U

更新日期：2005-10-15 00:00:00

abstract：:Abdominal aortic aneurysm (AAA) is a major cause of sudden death in the elderly. While AAA has some overlapping genetic and environmental risk factors with atherosclerosis, there are substantial differences, and AAA-specific medication is lacking. A recent meta-analysis of genome-wide association studies has identifie...

journal_title：Human molecular genetics

authors： Marsman J,Gimenez G,Day RC,Horsfield JA,Jones GT

更新日期：2020-03-13 00:00:00

abstract：:In-frame exon deletions of the Duchenne muscular dystrophy (DMD) gene produce internally truncated proteins that typically lead to Becker muscular dystrophy (BMD), a milder allelic disorder of DMD. We hypothesized that differences in the structure of mutant dystrophin may be responsible for the clinical heterogeneity ...

journal_title：Human molecular genetics

authors： Nicolas A,Raguénès-Nicol C,Ben Yaou R,Ameziane-Le Hir S,Chéron A,Vié V,Claustres M,Leturcq F,Delalande O,Hubert JF,Tuffery-Giraud S,Giudice E,Le Rumeur E,French Network of Clinical Reference Centres for Neuromuscular Diseases (

更新日期：2015-03-01 00:00:00

abstract：:Growing evidence suggests that amyotrophic lateral sclerosis (ALS) is a multisystem neurodegenerative disease that primarily affects motor neurons and, though less evidently, other neuronal systems. About 75% of sporadic and familial ALS patients show a subclinical degeneration of small-diameter fibers, as measured by...

journal_title：Human molecular genetics

authors： Sassone J,Taiana M,Lombardi R,Porretta-Serapiglia C,Freschi M,Bonanno S,Marcuzzo S,Caravello F,Bendotti C,Lauria G

更新日期：2016-04-15 00:00:00