Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder.

abstract：:The DAZ gene cluster on the human Y chromosome is a candidate for the Azoospermia Factor (AZFc). According to the current evolutionary model, the DAZ cluster derived from the autosomal homolog DAZL1 through duplications and rearrangements and is confined to Old World monkeys, apes and humans. To study functional and e...

journal_title：Human molecular genetics

authors： Gromoll J,Weinbauer GF,Skaletsky H,Schlatt S,Rocchietti-March M,Page DC,Nieschlag E

更新日期：1999-10-01 00:00:00

abstract：:Two common inflammatory skin disorders with impaired barrier, atopic dermatitis (AD) and psoriasis, share distinct genetic linkage to the Epidermal Differentiation Complex (EDC) locus on 1q21. The EDC is comprised of tandemly arrayed gene families encoding proteins involved in skin cell differentiation. Discovery of s...

journal_title：Human molecular genetics

authors： de Guzman Strong C,Conlan S,Deming CB,Cheng J,Sears KE,Segre JA

更新日期：2010-04-15 00:00:00

abstract：:Alzheimer's disease (AD) and related tauopathies comprise a large group of neurodegenerative diseases associated with the pathological aggregation of tau protein. While much effort has focused on understanding the function of tau, little is known about the endogenous mechanisms regulating tau metabolism in vivo and ho...

journal_title：Human molecular genetics

authors： Smith PY,Hernandez-Rapp J,Jolivette F,Lecours C,Bisht K,Goupil C,Dorval V,Parsi S,Morin F,Planel E,Bennett DA,Fernandez-Gomez FJ,Sergeant N,Buée L,Tremblay MÈ,Calon F,Hébert SS

更新日期：2015-12-01 00:00:00

abstract：:Ataxia-telangiectasia (A-T) is a multisystem, cancer-predisposing genetic disorder caused by deficiency of the ATM protein. To dissect the A-T phenotype, we augmented specific features of the human disease by generating mouse strains that combine Atm deficiency with dysfunction of other proteins. Increasing oxidative ...

journal_title：Human molecular genetics

authors： Ziv S,Brenner O,Amariglio N,Smorodinsky NI,Galron R,Carrion DV,Zhang W,Sharma GG,Pandita RK,Agarwal M,Elkon R,Katzin N,Bar-Am I,Pandita TK,Kucherlapati R,Rechavi G,Shiloh Y,Barzilai A

更新日期：2005-10-01 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：:The near completeness of human chromosome sequences is facilitating accurate characterization and assessment of all classes of genomic variation. Particularly, using the DNA reference sequence as a guide, genome scanning technologies, such as microarray-based comparative genomic hybridization (array CGH) and genome-wi...

journal_title：Human molecular genetics

authors： Feuk L,Marshall CR,Wintle RF,Scherer SW

更新日期：2006-04-15 00:00:00

abstract：:X-linked juvenile retinoschisis (XLRS) is an early-onset inherited condition that affects primarily males and is characterized by cystic lesions of the inner retina, decreased visual acuity and contrast sensitivity and a selective reduction of the electroretinogram (ERG) b-wave. Although XLRS is genetically heterogene...

journal_title：Human molecular genetics

authors： Liu Y,Kinoshita J,Ivanova E,Sun D,Li H,Liao T,Cao J,Bell BA,Wang JM,Tang Y,Brydges S,Peachey NS,Sagdullaev BT,Romano C

更新日期：2019-09-15 00:00:00

abstract：:LINE-1 elements comprise approximately 17% of human DNA and their mobility continues to impact genome evolution. However, little is known about the types of non-transformed cells that can support LINE-1 retrotransposition. Here, we show that human embryonic stem cells express endogenous LINE-1 elements and can accommo...

journal_title：Human molecular genetics

authors： Garcia-Perez JL,Marchetto MC,Muotri AR,Coufal NG,Gage FH,O'Shea KS,Moran JV

更新日期：2007-07-01 00:00:00

abstract：:CUL4A and CUL4B are closely related cullin family members and can each assemble a Cullin-RING E3 ligase complex (CRL) and participate in a variety of biological processes. While the CRLs formed by the two cullin members may have common targets, the two appeared to have very different consequences when mutated or disru...

journal_title：Human molecular genetics

authors： Zhao X,Jiang B,Hu H,Mao F,Mi J,Li Z,Liu Q,Shao C,Gong Y

更新日期：2015-02-01 00:00:00

abstract：:Progressive forms of multiple sclerosis lead to chronic disability, substantial decline in quality of life and reduced longevity. It is often suggested that they occur independently of inflammation. Here we investigated the disease progression in mouse models carrying PLP1 point mutations previously found in patients ...

journal_title：Human molecular genetics

authors： Groh J,Friedman HC,Orel N,Ip CW,Fischer S,Spahn I,Schäffner E,Hörner M,Stadler D,Buttmann M,Varallyay C,Solymosi L,Sendtner M,Peterson AC,Martini R

更新日期：2016-11-01 00:00:00

abstract：:Deficiency of thymidine kinase 2 (TK2) is a frequent cause of isolated myopathy or encephalomyopathy in children with mitochondrial DNA (mtDNA) depletion. To determine the bases of disease onset, organ specificity and severity of TK2 deficiency, we have carefully characterized Tk2 H126N knockin mice (Tk2-/-). Although...

journal_title：Human molecular genetics

authors： Dorado B,Area E,Akman HO,Hirano M

更新日期：2011-01-01 00:00:00

abstract：:Prader-Willi syndrome (PWS) is an imprinted genetic obesity disorder characterized by abnormalities of growth and metabolism. Multiple mouse models with deficiency of one or more PWS candidate genes have partially correlated individual genes with aspects of the PWS phenotype, although the genetic origin of defects in ...

journal_title：Human molecular genetics

authors： Bischof JM,Stewart CL,Wevrick R

更新日期：2007-11-15 00:00:00

abstract：:The Taiwan Biobank (TWB) aims to build a nationwide research database that integrates genomic/epigenomic profiles, lifestyle patterns, dietary habits, environmental exposure history and long-term health outcomes of 300,000 residents of Taiwan. We describe here an investigation of the population structure of Han Chines...

journal_title：Human molecular genetics

authors： Chen CH,Yang JH,Chiang CWK,Hsiung CN,Wu PE,Chang LC,Chu HW,Chang J,Song IW,Yang SL,Chen YT,Liu FT,Shen CY

更新日期：2016-12-15 00:00:00

abstract：:An important class of genetic variants that affect disease susceptibility may lie within regulatory elements that influence gene expression. Regulatory sequences are difficult to identify and may be distant from the genes they regulate, but many lie within evolutionarily conserved regions (ECRs). We used comparative g...

journal_title：Human molecular genetics

authors： Palles C,Johnson N,Coupland B,Taylor C,Carvajal J,Holly J,Fentiman IS,Silva Idos S,Ashworth A,Peto J,Fletcher O

更新日期：2008-05-15 00:00:00

abstract：:Mitochondrial dysfunction is implicated in aging and degenerative disorders such as Parkinson's disease (PD). Continuous fission and fusion of mitochondria shapes their morphology and is essential to maintain oxidative phosphorylation. Loss-of-function mutations in PTEN-induced kinase1 (PINK1) or Parkin cause a recess...

journal_title：Human molecular genetics

authors： Lee S,Sterky FH,Mourier A,Terzioglu M,Cullheim S,Olson L,Larsson NG

更新日期：2012-11-15 00:00:00

abstract：:A mutation in exon 4 of the human alpha-synuclein gene was reported recently in four families with autosomal dominant Parkinson's disease (PD). In order to examine whether mutations in this exon or elsewhere in the gene are common in familial PD, all seven exons of the alpha-synuclein gene were amplified by PCR from i...

journal_title：Human molecular genetics

authors： Vaughan JR,Farrer MJ,Wszolek ZK,Gasser T,Durr A,Agid Y,Bonifati V,DeMichele G,Volpe G,Lincoln S,Breteler M,Meco G,Brice A,Marsden CD,Hardy J,Wood NW

更新日期：1998-04-01 00:00:00

abstract：:Circletail is one of only two mouse mutants that exhibit the most severe form of neural tube defect (NTD), termed craniorachischisis. In this disorder, almost the entire brain and spinal cord is affected, owing to a failure to initiate neural tube closure. Craniorachischisis is a significant cause of lethality in huma...

journal_title：Human molecular genetics

authors： Murdoch JN,Henderson DJ,Doudney K,Gaston-Massuet C,Phillips HM,Paternotte C,Arkell R,Stanier P,Copp AJ

更新日期：2003-01-15 00:00:00

abstract：:In order to characterize the dynamics of CTG repeat instability in somatic and germline tissue from myotonic dystrophy (DM) males we have used small pool polymerase chain reaction (PCR) in a detailed quantitative analysis of repeat length variation. We demonstrate that the heterogeneous smear of CTG repeats observed i...

journal_title：Human molecular genetics

authors： Monckton DG,Wong LJ,Ashizawa T,Caskey CT

更新日期：1995-01-01 00:00:00

abstract：:Trinucleotide repeats at five disease loci (DM, DRPLA, HD, SBMA and SCA1) were surveyed in phenotypically normal individuals from three continental populations. This is the first analysis to examine the population dynamics of these five disease-related trinucleotide repeats in the same individuals from worldwide popul...

journal_title：Human molecular genetics

authors： Watkins WS,Bamshad M,Jorde LB

更新日期：1995-09-01 00:00:00

abstract：:Rheumatoid arthritis (RA) is the commonest chronic, systemic, inflammatory disorder affecting ∼1% of the world population. It has a strong genetic component and a growing number of associated genes have been discovered in genome-wide association studies (GWAS), which nevertheless only account for 23% of the total gene...

journal_title：Human molecular genetics

authors： Eleftherohorinou H,Hoggart CJ,Wright VJ,Levin M,Coin LJ

更新日期：2011-09-01 00:00:00

abstract：:Senataxin, encoded by the SETX gene, contributes to multiple aspects of gene expression, including transcription and RNA processing. Mutations in SETX cause the recessive disorder ataxia with oculomotor apraxia type 2 (AOA2) and a dominant juvenile form of amyotrophic lateral sclerosis (ALS4). To assess the functional...

journal_title：Human molecular genetics

authors： Fogel BL,Cho E,Wahnich A,Gao F,Becherel OJ,Wang X,Fike F,Chen L,Criscuolo C,De Michele G,Filla A,Collins A,Hahn AF,Gatti RA,Konopka G,Perlman S,Lavin MF,Geschwind DH,Coppola G

更新日期：2014-09-15 00:00:00

abstract：:To enhance our understanding of the autosomal recessive limb-girdle muscular dystrophy (LGMD), patients from six genetically distinct forms (LGMD2A to LGMD2F) were studied with antibodies directed against four sarcoglycan subunits (alpha-, beta-, gamma-, delta-SG), dystrophin, beta-dystroglycan (beta-DG) and merosin. ...

journal_title：Human molecular genetics

authors： Vainzof M,Passos-Bueno MR,Canovas M,Moreira ES,Pavanello RC,Marie SK,Anderson LV,Bonnemann CG,McNally EM,Nigro V,Kunkel LM,Zatz M

更新日期：1996-12-01 00:00:00

abstract：:An intronic GGGGCC (G4C2) hexanucleotide repeat expansion inC9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Repeat-associated non-AUG (RAN) translation of G4C2 RNA can result in five different dipeptide repeat proteins (DPR: poly GA, poly GP, poly GR, ...

journal_title：Human molecular genetics

authors： Lee YB,Baskaran P,Gomez-Deza J,Chen HJ,Nishimura AL,Smith BN,Troakes C,Adachi Y,Stepto A,Petrucelli L,Gallo JM,Hirth F,Rogelj B,Guthrie S,Shaw CE

更新日期：2017-12-15 00:00:00

abstract：:Polyglutamine expansions in the huntingtin gene cause Huntington's disease (HD). Huntingtin is ubiquitously expressed, leading to pathological alterations also in peripheral organs. Variations in the length of the polyglutamine tract explain up to 70% of the age-at-onset variance, with the rest of the variance attribu...

journal_title：Human molecular genetics

authors： Corrochano S,Blanco G,Williams D,Wettstein J,Simon M,Kumar S,Moir L,Agnew T,Stewart M,Landman A,Kotiadis VN,Duchen MR,Wackerhage H,Rubinsztein DC,Brown SDM,Acevedo-Arozena A

更新日期：2018-05-15 00:00:00

abstract：:The gene encoding protein kinase WNK2 was recently identified to be silenced by promoter hypermethylation in gliomas and meningiomas, suggesting a tumour-suppressor role in these brain tumours. Following experimental depletion in cell lines, WNK2 was further found to control GTP-loading of Rac1, a signalling guanosine...

journal_title：Human molecular genetics

authors： Moniz S,Martinho O,Pinto F,Sousa B,Loureiro C,Oliveira MJ,Moita LF,Honavar M,Pinheiro C,Pires M,Lopes JM,Jones C,Costello JF,Paredes J,Reis RM,Jordan P

更新日期：2013-01-01 00:00:00

abstract：:Both genetic and environmental factors contribute to the development of intellectual disability (ID). Previously, we identified a promoter variant (-113C>A) in PLP2 (proteolipid protein 2) that results in an ∼4-fold reduction of transcript and protein and is overly represented in males with X-linked ID (XLID). The fun...

journal_title：Human molecular genetics

authors： Zhang L,Wang T,Valle D

更新日期：2015-12-20 00:00:00

abstract：:The early growth response 2 gene ( EGR2 ) is a Cys2His2zinc finger transcription factor which is thought to play a role in the regulation of peripheral nervous system myelination. This idea is based partly on the phenotype of homozygous Krox20 ( Egr2 ) knockout mice, which display hypomyelination of the PNS and a bloc...

journal_title：Human molecular genetics

authors： Warner LE,Svaren J,Milbrandt J,Lupski JR

更新日期：1999-07-01 00:00:00

abstract：:Human single gene disorders that affect the nervous system provide a host of natural mutations that can be deployed in the quest to understand its development and function. A paradigm for this approach is the study of disorders caused by mutations in the gene for the neural cell recognition molecule L1. L1 is the foun...

journal_title：Human molecular genetics

authors： Kenwrick S,Watkins A,De Angelis E

更新日期：2000-04-12 00:00:00

abstract：:In human type 1 diabetes (T1D) and in its murine model, the major histocompatibility complex (MHC) class II molecules, human leukocyte antigens (HLA)-DQ and -DR and their murine orthologues, IA and IE, are the major genetic determinants. In this report, we have ranked HLA class II molecule-associated T1D risk in a two...

journal_title：Human molecular genetics

authors： Cucca F,Lampis R,Congia M,Angius E,Nutland S,Bain SC,Barnett AH,Todd JA

更新日期：2001-09-15 00:00:00

abstract：:CHD7 mutations are implicated in a majority of cases of the congenital disorder, CHARGE syndrome. CHARGE, an autosomal dominant syndrome, is known to affect multiple tissues including eye, heart, ear, craniofacial nerves and skeleton and genital organs. Using a morpholino-antisense-oligonucleotide-based zebrafish mode...

journal_title：Human molecular genetics

authors： Asad Z,Pandey A,Babu A,Sun Y,Shevade K,Kapoor S,Ullah I,Ranjan S,Scaria V,Bajpai R,Sachidanandan C

更新日期：2016-08-15 00:00:00