The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.

abstract：:Angelman syndrome (AS) is a neurodevelopmental disorder caused due to deletions or loss-of-function mutations in maternally inherited UBE3A. Ube3a functions as an ubiquitin ligase as well as a transcriptional coactivator of steroid hormone receptors. However, the mechanisms by which maternal Ube3a deficiency gives ris...

journal_title：Human molecular genetics

authors： Godavarthi SK,Dey P,Maheshwari M,Jana NR

更新日期：2012-04-15 00:00:00

abstract：:Hypertension is a complex disease that affects a large proportion of adult population. Although approximately half of the inter-individual variance in blood pressure (BP) level is heritable, identification of genes responsible for its regulation has remained challenging. Genome-wide association study (GWAS) is a novel...

journal_title：Human molecular genetics

authors： Org E,Eyheramendy S,Juhanson P,Gieger C,Lichtner P,Klopp N,Veldre G,Döring A,Viigimaa M,Sõber S,Tomberg K,Eckstein G,KORA.,Kelgo P,Rebane T,Shaw-Hawkins S,Howard P,Onipinla A,Dobson RJ,Newhouse SJ,Brown M,Domini

更新日期：2009-06-15 00:00:00

abstract：:Huntington's disease (HD) is caused by a polyglutamine expansion mutation in the huntingtin protein that confers a toxic gain-of-function and causes the protein to become aggregate-prone. Aggregate-prone proteins are cleared by macroautophagy, and upregulating this process by rapamycin, which inhibits the mammalian ta...

journal_title：Human molecular genetics

authors： Sarkar S,Krishna G,Imarisio S,Saiki S,O'Kane CJ,Rubinsztein DC

更新日期：2008-01-15 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：:Fragile X Syndrome (FXS) is a learning disability seen in individuals who have >200 CGG•CCG repeats in the 5' untranslated region of the X-linked FMR1 gene. Such alleles are associated with a fragile site, FRAXA, a gap or constriction in the chromosome that is coincident with the repeat and is induced by folate stress...

journal_title：Human molecular genetics

authors： Yudkin D,Hayward BE,Aladjem MI,Kumari D,Usdin K

更新日期：2014-06-01 00:00:00

abstract：:Decreases in the ratio of neurotrophic versus neurodegenerative signalling play a critical role in Huntington’s disease (HD) pathogenesis and recent evidence suggests that the p75 neurotrophin receptor (NTR) contributes significantly to disease progression. p75NTR signalling intermediates substantially overlap with th...

journal_title：Human molecular genetics

authors： Simmons DA,Belichenko NP,Ford EC,Semaan S,Monbureau M,Aiyaswamy S,Holman CM,Condon C,Shamloo M,Massa SM,Longo FM

更新日期：2016-11-15 00:00:00

abstract：:Apoptosis is a morphologically distinct form of cell death involved in many physiological and pathological processes. The regulation of Fas/Apo-1 involved in membrane-mediated apoptosis has also been known to play crucial roles in many systems. More and more naturally occurring antisense RNAs are now known to regulate...

journal_title：Human molecular genetics

authors： Yan MD,Hong CC,Lai GM,Cheng AL,Lin YW,Chuang SE

更新日期：2005-06-01 00:00:00

abstract：:Elevated blood pressure (BP) is a major global risk factor for cardiovascular disease. Genome-wide association studies have identified several genetic variants at the NPR3 locus associated with BP, but the functional impact of these variants remains to be determined. Here we confirmed, by a genome-wide association stu...

journal_title：Human molecular genetics

authors： Ren M,Ng FL,Warren HR,Witkowska K,Baron M,Jia Z,Cabrera C,Zhang R,Mifsud B,Munroe PB,Xiao Q,Townsend-Nicholson A,Hobbs AJ,Ye S,Caulfield MJ

更新日期：2018-01-01 00:00:00

abstract：:Skin color is a highly heritable human trait, and global variation in skin pigmentation has been shaped by natural selection, migration, and admixture. Ethnically diverse African populations harbor extremely high levels of genetic and phenotypic diversity, and skin pigmentation varies widely across Africa. Recent geno...

journal_title：Human molecular genetics

authors： Feng Y,McQuillan MA,Tishkoff SA

更新日期：2021-01-12 00:00:00

abstract：:The vast majority of Friedreich ataxia patients are homozygous for large GAA triplet repeat expansions in intron 1 of the X25 gene. Instability of the expanded GAA repeat was examined in 23 chromosomes bearing 97-1250 triplets in lymphoblastoid cell lines passaged 20-39 times. Southern analyses revealed 18 events of s...

journal_title：Human molecular genetics

authors： Bidichandani SI,Purandare SM,Taylor EE,Gumin G,Machkhas H,Harati Y,Gibbs RA,Ashizawa T,Patel PI

更新日期：1999-12-01 00:00:00

abstract：:The protein ataxin-3 (ATX3) triggers an amyloid-related neurodegenerative disease when its polyglutamine stretch is expanded beyond a critical threshold. We formerly demonstrated that the polyphenol epigallocatechin-3-gallate (EGCG) could redirect amyloid aggregation of a full-length, expanded ATX3 (ATX3-Q55) towards ...

journal_title：Human molecular genetics

authors： Visentin C,Pellistri F,Natalello A,Vertemara J,Bonanomi M,Gatta E,Penco A,Relini A,De Gioia L,Airoldi C,Regonesi ME,Tortora P

更新日期：2017-09-01 00:00:00

abstract：:Genetic variants in one-carbon folate metabolism have been identified as risk factors for disease because they may impair the production or use of one-carbon folates required for nucleotide synthesis and methylation. p.R653Q (1958G>A) is a single-nucleotide polymorphism (SNP) in the 10-formyltetrahydrofolate (formylTH...

journal_title：Human molecular genetics

authors： Christensen KE,Deng L,Leung KY,Arning E,Bottiglieri T,Malysheva OV,Caudill MA,Krupenko NI,Greene ND,Jerome-Majewska L,MacKenzie RE,Rozen R

更新日期：2013-09-15 00:00:00

abstract：:Mutations in Fused in sarcoma (FUS) gene cause a subset of familial amyotrophic lateral sclerosis (ALS), a fatal motor neuron degenerative disease. Wild-type FUS is largely localized in the nucleus, but mutant FUS accumulates in the cytoplasm and forms inclusions. It is unclear whether FUS depletion from the nucleus o...

journal_title：Human molecular genetics

authors： Yang L,Zhang J,Kamelgarn M,Niu C,Gal J,Gong W,Zhu H

更新日期：2015-09-15 00:00:00

abstract：:F1Fo-ATP synthase is a key enzyme of mitochondrial energy provision producing most of cellular ATP. So far, mitochondrial diseases caused by isolated disorders of the ATP synthase have been shown to result from mutations in mtDNA genes for the subunits ATP6 and ATP8 or in nuclear genes encoding the biogenesis factors ...

journal_title：Human molecular genetics

authors： Mayr JA,Havlícková V,Zimmermann F,Magler I,Kaplanová V,Jesina P,Pecinová A,Nusková H,Koch J,Sperl W,Houstek J

更新日期：2010-09-01 00:00:00

abstract：:The epilepsies are a group of disorders characterised by recurrent seizures caused by episodes of abnormal neuronal hyperexcitability involving the brain. Up to 60 million people are affected worldwide and genetic factors may contribute to the aetiology in up to 40% of patients. The most common human genetic epilepsie...

journal_title：Human molecular genetics

authors： Elmslie FV,Rees M,Williamson MP,Kerr M,Kjeldsen MJ,Pang KA,Sundqvist A,Friis ML,Chadwick D,Richens A,Covanis A,Santos M,Arzimanoglou A,Panayiotopoulos CP,Curtis D,Whitehouse WP,Gardiner RM

更新日期：1997-08-01 00:00:00

abstract：:Friedreich ataxia is commonly caused by large expansions of a GAA triplet-repeat (GAA-TR) sequence in the first intron of the FRDA gene. We used small-pool PCR to analyze somatic variability among 7190 individual FRDA molecules from peripheral blood DNA of subjects carrying 12 different expanded alleles, ranging in si...

journal_title：Human molecular genetics

authors： Sharma R,Bhatti S,Gomez M,Clark RM,Murray C,Ashizawa T,Bidichandani SI

更新日期：2002-09-01 00:00:00

abstract：:Nicotine is thought to act on brain monoamine systems that normally mediate diverse motivational behaviors. How monoamine-related genes contribute to behavioral traits (e.g. responses to novel stimuli) comorbid with the susceptibility to nicotine addiction is still poorly understood. We examined the impact of constitu...

journal_title：Human molecular genetics

authors： Agatsuma S,Lee M,Zhu H,Chen K,Shih JC,Seif I,Hiroi N

更新日期：2006-09-15 00:00:00

abstract：:KDM6B/JMJD3 is a histone H3 lysine demethylase with an important gene regulatory role in development and physiology. Here, we show that human JMJD3 expression is induced by the active vitamin D metabolite 1α,25-dihydroxyvitamin D(3) (1,25(OH)(2)D(3)) and that JMJD3 modulates the gene regulatory action of this hormone....

journal_title：Human molecular genetics

authors： Pereira F,Barbáchano A,Silva J,Bonilla F,Campbell MJ,Muñoz A,Larriba MJ

更新日期：2011-12-01 00:00:00

abstract：:The association between breast cancer risk and genetic variants of fibroblast growth factor receptor 2 (FGFR2) has been identified and repeatedly confirmed; however, the mechanism underlying FGFR2 in breast tumorigenesis remains obscure. Given that breast tumorigenesis is particularly related to DNA double-strand-brea...

journal_title：Human molecular genetics

authors： Huang YL,Chou WC,Hsiung CN,Hu LY,Chu HW,Shen CY

更新日期：2015-06-15 00:00:00

abstract：:Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes implicated in several dominant and recessive disease phenotypes. The canonical function of ARSs is to couple an amino acid to a cognate transfer RNA (tRNA). We identified three novel disease-associated missense mutations in the alanyl-tRNA synthetase...

journal_title：Human molecular genetics

authors： Weterman MAJ,Kuo M,Kenter SB,Gordillo S,Karjosukarso DW,Takase R,Bronk M,Oprescu S,van Ruissen F,Witteveen RJW,Bienfait HME,Breuning M,Verhamme C,Hou YM,de Visser M,Antonellis A,Baas F

更新日期：2018-12-01 00:00:00

abstract：:Cerebrospinal fluid amyloid-beta 1-42 (Aβ1-42) and phosphorylated Tau at position 181 (pTau181) are biomarkers of Alzheimer's disease (AD). We performed an analysis and meta-analysis of genome-wide association study data on Aβ1-42 and pTau181 in AD dementia patients followed by independent replication. An association ...

journal_title：Human molecular genetics

authors： Ramirez A,van der Flier WM,Herold C,Ramonet D,Heilmann S,Lewczuk P,Popp J,Lacour A,Drichel D,Louwersheimer E,Kummer MP,Cruchaga C,Hoffmann P,Teunissen C,Holstege H,Kornhuber J,Peters O,Naj AC,Chouraki V,Bellenguez C

更新日期：2014-12-15 00:00:00

abstract：:Mutations in the MYOC gene may lead to juvenile open-angle glaucoma with high intraocular pressure, and are detected in about 4% of people with adult onset glaucoma. Most of these mutations are found in the third exon of the gene encoding the olfactomedin-like domain located at the C terminus of the protein. Another o...

journal_title：Human molecular genetics

authors： Torrado M,Trivedi R,Zinovieva R,Karavanova I,Tomarev SI

更新日期：2002-05-15 00:00:00

abstract：:Changes in gene expression resulting from epigenetic and/or genetic changes play an important role in the evolutionary divergence of phenotypes. To explore how epigenetic and genetic changes are linked during primate evolution, we have compared the genome-wide DNA methylation profiles (methylomes) of humans and chimpa...

journal_title：Human molecular genetics

authors： Fukuda K,Inoguchi Y,Ichiyanagi K,Ichiyanagi T,Go Y,Nagano M,Yanagawa Y,Takaesu N,Ohkawa Y,Imai H,Sasaki H

更新日期：2017-09-15 00:00:00

abstract：:Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait. The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an impaired tonofilament network of differentiating epidermal cells. Here, we describe for the first time a kindred with rece...

journal_title：Human molecular genetics

authors： Müller FB,Huber M,Kinaciyan T,Hausser I,Schaffrath C,Krieg T,Hohl D,Korge BP,Arin MJ

更新日期：2006-04-01 00:00:00

abstract：:Little is known about the post-transcriptional mechanisms that modulate the genetic effects in the molecular pathways underlying Alzheimer disease (AD), and even less is known about how these changes might differ across diverse populations. RNA editing, the process that alters individual bases of RNA, may contribute t...

journal_title：Human molecular genetics

authors： Gardner OK,Wang L,Van Booven D,Whitehead PL,Hamilton-Nelson KL,Adams LD,Starks TD,Hofmann NK,Vance JM,Cuccaro ML,Martin ER,Byrd GS,Haines JL,Bush WS,Beecham GW,Pericak-Vance MA,Griswold AJ

更新日期：2019-09-15 00:00:00

abstract：:According to the telomere hypothesis of senescence, the progressive shortening of telomeres that occurs upon division of normal somatic cells eventually leads to cellular senescence. The immortalisation of human cells is associated with the acquisition of a telomere maintenance mechanism which is usually dependent upo...

journal_title：Human molecular genetics

authors： Bryan TM,Marusic L,Bacchetti S,Namba M,Reddel RR

更新日期：1997-06-01 00:00:00

abstract：:Germline mutations in the RB1 gene confer hereditary predisposition to retinoblastoma. The majority of these mutations occur de novo and differ from one patient to another. Cytogenetics and Southern blotting were shown to detect less than 15% of constitutional rearrangements. In this study we used the polymerase chain...

journal_title：Human molecular genetics

authors： Blanquet V,Turleau C,Gross MS,Goossens M,Besmond C

更新日期：1993-07-01 00:00:00

abstract：:The Pearson marrow-pancreas syndrome (MIM 557000) is a disorder involving the hematopoietic system and the exocrine pancreas in early infancy. We have previously shown that this disease results from a defect of oxidative phosphorylation associated with deletions of the mitochondrial DNA. We present here a series of 21...

journal_title：Human molecular genetics

authors： Rötig A,Bourgeron T,Chretien D,Rustin P,Munnich A

更新日期：1995-08-01 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：:The CCG rich sequence immediately 3' to the CAG repeat that is expanded in Huntington's disease (HD) has recently been shown to be polymorphic with at least 4 alleles differing by multiples of 3 bp being found in the normal population. We have studied the allele distribution in 180 HD families resident in Scotland and...

journal_title：Human molecular genetics

authors： Barron LH,Rae A,Holloway S,Brock DJ,Warner JP

更新日期：1994-01-01 00:00:00