The Old World monkey DAZ (Deleted in AZoospermia) gene yields insights into the evolution of the DAZ gene cluster on the human Y chromosome.

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：:Hypomorphic mutations of the MRE11 gene are the hallmark of the radiosensitive ataxia-telangiectasia-like disorder (ATLD). Here, we describe a new family with two affected siblings, ATLD5 and ATLD6, now aged 37 and 36, respectively. They presented with late onset cerebellar degeneration slowly progressing until pubert...

journal_title：Human molecular genetics

authors： Delia D,Piane M,Buscemi G,Savio C,Palmeri S,Lulli P,Carlessi L,Fontanella E,Chessa L

更新日期：2004-09-15 00:00:00

abstract：:Recent findings from genetic epidemiology and from genome-wide association studies point strongly to a partial overlap in the genes that contribute susceptibility to schizophrenia and bipolar disorder (BD). Previous data have also directly implicated one of the best supported schizophrenia-associated loci, zinc finger...

journal_title：Human molecular genetics

authors： Williams HJ,Craddock N,Russo G,Hamshere ML,Moskvina V,Dwyer S,Smith RL,Green E,Grozeva D,Holmans P,Owen MJ,O'Donovan MC

更新日期：2011-01-15 00:00:00

abstract：:To identify genes that affect body mass index (BMI) in American Indians who are predominately of Pima Indian heritage, we previously completed a genome-wide association study in 1120 American Indians. That study also included follow-up genotyping for 9 SNPs in 2133 additional subjects. A comprehensive follow-up study ...

journal_title：Human molecular genetics

authors： Bian L,Traurig M,Hanson RL,Marinelarena A,Kobes S,Muller YL,Malhotra A,Huang K,Perez J,Gale A,Knowler WC,Bogardus C,Baier LJ

更新日期：2013-11-01 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：:The FMR1 gene, associated with fragile X syndrome, has recently been cloned and the sequence of partial cDNA clones is known. We have determined additional cDNA sequences both at the 5' and 3' end. We have characterized the expressed gene by means of RT-PCR in various tissues and have found that alternative splicing t...

journal_title：Human molecular genetics

authors： Verkerk AJ,de Graaff E,De Boulle K,Eichler EE,Konecki DS,Reyniers E,Manca A,Poustka A,Willems PJ,Nelson DL

更新日期：1993-04-01 00:00:00

abstract：:Expanded glutamine repeats of the ataxin-2 (ATXN2) protein cause spinocerebellar ataxia type 2 (SCA2), a rare neurodegenerative disorder. More recent studies have suggested that expanded ATXN2 repeats are a genetic risk factor for amyotrophic lateral sclerosis (ALS) via an RNA-dependent interaction with TDP-43. Given ...

journal_title：Human molecular genetics

authors： Ross OA,Rutherford NJ,Baker M,Soto-Ortolaza AI,Carrasquillo MM,DeJesus-Hernandez M,Adamson J,Li M,Volkening K,Finger E,Seeley WW,Hatanpaa KJ,Lomen-Hoerth C,Kertesz A,Bigio EH,Lippa C,Woodruff BK,Knopman DS,White CL 3r

更新日期：2011-08-15 00:00:00

abstract：:The Hirschsprung disease (HSCR) is a complex congenital disorder, arising from abnormalities in enteric nervous system (ENS) development. There is a gender disparity among the patients, with the male to female ratio as high as 5 : 1. Loss-of-function mutations of HSCR genes and haploinsufficiency of their gene product...

journal_title：Human molecular genetics

authors： Li Y,Kido T,Garcia-Barcelo MM,Tam PK,Tabatabai ZL,Lau YF

更新日期：2015-02-01 00:00:00

abstract：:The human genomic instability syndrome ataxia telangiectasia (A-T), caused by mutations in the gene encoding the DNA damage checkpoint kinase ATM, is characterized by multisystem defects including neurodegeneration, immunodeficiency and increased cancer predisposition. ATM is central to a pathway that responds to doub...

journal_title：Human molecular genetics

authors： Balmus G,Zhu M,Mukherjee S,Lyndaker AM,Hume KR,Lee J,Riccio ML,Reeves AP,Sutter NB,Noden DM,Peters RM,Weiss RS

更新日期：2012-08-01 00:00:00

abstract：:Multiple mitochondrial DNA deletions are associated with clinically heterogeneous disorders transmitted as mendelian traits. Dominant missense mutations were found in the gene encoding the heart and skeletal muscle-specific isoform of the adenine nucleotide translocator (ANT1) in families with autosomal dominant progr...

journal_title：Human molecular genetics

authors： Palmieri L,Alberio S,Pisano I,Lodi T,Meznaric-Petrusa M,Zidar J,Santoro A,Scarcia P,Fontanesi F,Lamantea E,Ferrero I,Zeviani M

更新日期：2005-10-15 00:00:00

abstract：:Gamma glutamyl cysteine ligase (GCL) is the rate-limiting enzyme for intracellular glutathione (GSH) synthesis. The GSH concentration and GCL activity are declining with age in the central nervous system (CNS), and is accompanied by elevated reactive oxygen species (ROS). To study the biological effects of low GSH lev...

journal_title：Human molecular genetics

authors： Feng W,Rosca M,Fan Y,Hu Y,Feng P,Lee HG,Monnier VM,Fan X

更新日期：2017-04-01 00:00:00

abstract：:Familial hypercholesterolaemia (FH) is characterized by increased circulating low-density lipoprotein (LDL) cholesterol leading to premature atherosclerosis and coronary heart disease. Although FH is usually caused by mutations in LDLR, mutations in APOB and PCSK9 also cause FH but only a few mutations have been repor...

journal_title：Human molecular genetics

authors： Alves AC,Etxebarria A,Soutar AK,Martin C,Bourbon M

更新日期：2014-04-01 00:00:00

abstract：:'Pure' familial spastic paraplegias (FSP) are neurodegenerative disorders that are clinically characterized by progressive spasticity of the lower limbs and are inherited as autosomal dominant (DFSP) or autosomal recessive (RFSP) traits. The primary defect in FSP is unknown. Genetic linkage analysis was applied to fiv...

journal_title：Human molecular genetics

authors： Hentati A,Pericak-Vance MA,Hung WY,Belal S,Laing N,Boustany RM,Hentati F,Ben Hamida M,Siddique T

更新日期：1994-08-01 00:00:00

abstract：:Hearing loss is the most common sensory deficit in humans. We show that a point mutation in DCDC2 (DCDC2a), a member of doublecortin domain-containing protein superfamily, causes non-syndromic recessive deafness DFNB66 in a Tunisian family. Using immunofluorescence on rat inner ear neuroepithelia, DCDC2a was found to ...

journal_title：Human molecular genetics

authors： Grati M,Chakchouk I,Ma Q,Bensaid M,Desmidt A,Turki N,Yan D,Baanannou A,Mittal R,Driss N,Blanton S,Farooq A,Lu Z,Liu XZ,Masmoudi S

更新日期：2015-05-01 00:00:00

abstract：:Huntington's disease shares a common molecular basis with eight other neurodegenerative diseases, expansion of an existing polyglutamine tract. In each case, this repeat tract occurs within otherwise unrelated proteins. These proteins show widespread and overlapping patterns of expression in the brain and yet the dise...

journal_title：Human molecular genetics

authors： Henshall TL,Tucker B,Lumsden AL,Nornes S,Lardelli MT,Richards RI

更新日期：2009-12-15 00:00:00

abstract：:Mitochondrial dysfunction plays an important role in the etiology of neurodegenerative diseases. However, the progressive nature of neuronal loss in genetic models of mitochondrial dysfunction suggests the presence of compensatory mechanisms promoting neuronal survival under these conditions. Here, we identified the e...

journal_title：Human molecular genetics

authors： Germain M,Nguyen AP,Khacho M,Patten DA,Screaton RA,Park DS,Slack RS

更新日期：2013-03-01 00:00:00

abstract：:Uncontrolled cell cycle entry, resulting from deregulated CDK-RB1-E2F pathway activity, is a crucial determinant of neuroblastoma cell malignancy. Here we identify neuroblastoma-suppressive functions of the p19-INK4d CDK inhibitor and uncover mechanisms of its repression in high-risk neuroblastomas. Reduced p19-INK4d ...

journal_title：Human molecular genetics

authors： Dreidax D,Bannert S,Henrich KO,Schröder C,Bender S,Oakes CC,Lindner S,Schulte JH,Duffy D,Schwarzl T,Saadati M,Ehemann V,Benner A,Pfister S,Fischer M,Westermann F

更新日期：2014-12-20 00:00:00

abstract：:Autism spectrum disorder (ASD) is characterized by a triad of behavioural impairments including social behaviour. Neuroligin, a trans-synaptic adhesion molecule, has emerged as a penetrant genetic determinant of behavioural traits that signature the neuroatypical behaviours of autism. However, the function of neurolig...

journal_title：Human molecular genetics

authors： Rawsthorne H,Calahorro F,Feist E,Holden-Dye L,O'Connor V,Dillon J

更新日期：2021-01-06 00:00:00

abstract：:Selective loss of dopaminergic neurons is the final common pathway in Parkinson's disease. Expression of Parkin associated endothelin-receptor like receptor (Pael-R) in mouse brain was achieved by injecting adenoviral vectors carrying a modified neuron-specific promoter and Cre recombinase into the striatum. Upregulat...

journal_title：Human molecular genetics

authors： Kitao Y,Imai Y,Ozawa K,Kataoka A,Ikeda T,Soda M,Nakimawa K,Kiyama H,Stern DM,Hori O,Wakamatsu K,Ito S,Itohara S,Takahashi R,Ogawa S

更新日期：2007-01-01 00:00:00

abstract：:Glial cell line-derived neurotrophic factor (GDNF), a distant member of the TGF-beta superfamily, is a survival factor for various neurons, making it a potential therapeutic agent for neurodegenerative disorders. Here we present the genomic structure and characterization of the promoter of the human GDNF (hGDNF) gene....

journal_title：Human molecular genetics

authors： Grimm L,Holinski-Feder E,Teodoridis J,Scheffer B,Schindelhauer D,Meitinger T,Ueffing M

更新日期：1998-11-01 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：:To examine whether the dosage effect of germ-line mutations in patients with familial adenomatous polyposis (FAP) is sufficient to cause colorectal adenomas, or an additional somatic mutation of the normal allele is required as well, we have investigated somatic mutations of the APC gene in multiple adenomas developed...

journal_title：Human molecular genetics

authors： Ichii S,Horii A,Nakatsuru S,Furuyama J,Utsunomiya J,Nakamura Y

更新日期：1992-09-01 00:00:00

abstract：:Mutation analysis was performed on DNA samples of 965 individuals from four different ethnic groups in South Africa, in an attempt to determine the spectrum of sequence variants in the haemochromatosis ( HFE ) gene. This population screening approach, utilizing a combined heteroduplex and single-strand conformation po...

journal_title：Human molecular genetics

authors： de Villiers JN,Hillermann R,Loubser L,Kotze MJ

更新日期：1999-08-01 00:00:00

abstract：:Missing teeth (hypodontia and oligodontia) are a common developmental abnormality in humans and heterozygous mutations of PAX9 have recently been shown to underlie a number of familial, non-syndromic cases. Whereas PAX9 haploinsufficiency has been suggested as the underlying genetic mechanism, it is not known how this...

journal_title：Human molecular genetics

authors： Kist R,Watson M,Wang X,Cairns P,Miles C,Reid DJ,Peters H

更新日期：2005-12-01 00:00:00

abstract：:Alzheimer's disease (AD) and Parkinson's disease (PD), the two most common neurodegenerative disorders in the elderly, have been hypothesized to share genetic determinants. Recently, Li et al. proposed that a variant in the NEDD9 gene may be one of these common genetic factors. We attempted to confirm this initial obs...

journal_title：Human molecular genetics

authors： Chapuis J,Moisan F,Mellick G,Elbaz A,Silburn P,Pasquier F,Hannequin D,Lendon C,Campion D,Amouyel P,Lambert JC

更新日期：2008-09-15 00:00:00

abstract：:An increased rate of de novo copy number variants (CNVs) has been found in schizophrenia (SZ), autism and developmental delay. An increased rate has also been reported in bipolar affective disorder (BD). Here, in a larger BD sample, we aimed to replicate these findings and compare de novo CNVs between SZ and BD. We us...

journal_title：Human molecular genetics

authors： Georgieva L,Rees E,Moran JL,Chambert KD,Milanova V,Craddock N,Purcell S,Sklar P,McCarroll S,Holmans P,O'Donovan MC,Owen MJ,Kirov G

更新日期：2014-12-15 00:00:00

abstract：:Single-nucleotide polymorphism (SNP) tagging is widely used as a way of saving genotyping costs in association studies. A number of different tagging methods have been developed to reduce the number of markers to be genotyped while maintaining power for detecting effects on non-assayed SNPs. How the different methods ...

journal_title：Human molecular genetics

authors： Ke X,Miretti MM,Broxholme J,Hunt S,Beck S,Bentley DR,Deloukas P,Cardon LR

更新日期：2005-09-15 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：:Mutations in DNAJC13 gene have been linked to familial form of Parkinson's disease (PD) with Lewy pathology. DNAJC13 is an endosome-related protein and believed to regulate endosomal membrane trafficking. However, the mechanistic link between DNAJC13 mutation and α-synuclein (αSYN) pathology toward neurodegeneration r...

journal_title：Human molecular genetics

authors： Yoshida S,Hasegawa T,Suzuki M,Sugeno N,Kobayashi J,Ueyama M,Fukuda M,Ido-Fujibayashi A,Sekiguchi K,Ezura M,Kikuchi A,Baba T,Takeda A,Mochizuki H,Nagai Y,Aoki M

更新日期：2018-03-01 00:00:00

abstract：:We have identified a rare mutation (T-45C) in the low density lipoprotein (LDL)-receptor gene in a Welsh patient with a clinical diagnosis of heterozygous familial hypercholesterolaemia (FH). The mutation is in the proximal Sp1 binding site in repeat 3 of the 42 bp region of the promoter required for sterol-dependent ...

journal_title：Human molecular genetics

authors： Sun XM,Neuwirth C,Wade DP,Knight BL,Soutar AK

更新日期：1995-11-01 00:00:00