Impaired genomic stability and increased oxidative stress exacerbate different features of Ataxia-telangiectasia.

abstract：:PLEKHA7, a gene recently associated with primary angle closure glaucoma (PACG), encodes an apical junctional protein expressed in components of the blood aqueous barrier (BAB). We found that PLEKHA7 is down-regulated in lens epithelial cells and in iris tissue of PACG patients. PLEKHA7 expression also correlated with ...

journal_title：Human molecular genetics

authors： Lee MC,Shei W,Chan AS,Chua BT,Goh SR,Chong YF,Hilmy MH,Nongpiur ME,Baskaran M,Khor CC,Aung T,Hunziker W,Vithana EN

更新日期：2017-10-15 00:00:00

abstract：:We studied the association between common haplotypes in six relevant lipid metabolism genes with plasma lipid levels. We selected single-nucleotide polymorphisms (SNPs) in the cholesterol ester transfer protein (CETP), lipoprotein lipase (LPL), hepatic triglyceride lipase (HL), low-density lipoprotein cholesterol rece...

journal_title：Human molecular genetics

authors： Knoblauch H,Bauerfeind A,Krähenbühl C,Daury A,Rohde K,Bejanin S,Essioux L,Schuster H,Luft FC,Reich JG

更新日期：2002-06-01 00:00:00

abstract：:PTEN, a tumor suppressor phosphatase that dephosphorylates both protein and lipid substrates, is mutated in both heritable and sporadic breast cancer. Until recently, PTEN-mediated cell cycle arrest and apoptosis were thought to occur through its well-documented cytoplasmic activities. We have shown that PTEN localize...

journal_title：Human molecular genetics

authors： Chung JH,Ostrowski MC,Romigh T,Minaguchi T,Waite KA,Eng C

更新日期：2006-09-01 00:00:00

abstract：:Mutations in PTEN-induced putative kinase 1 (PINK1) or parkin cause autosomal recessive forms of Parkinson disease (PD), but how these mutations trigger neurodegeneration is poorly understood and the exact functional relationship between PINK1 and parkin remains unclear. Here, we report that PINK1 regulates the E3 ubi...

journal_title：Human molecular genetics

authors： Sha D,Chin LS,Li L

更新日期：2010-01-15 00:00:00

abstract：:Understanding the role of the epigenome in protein-misfolding diseases remains a challenge in light of genetic diversity found in the world-wide population revealed by human genome sequencing efforts and the highly variable response of the disease population to therapeutics. An ever-growing body of evidence has shown ...

journal_title：Human molecular genetics

authors： Anglès F,Hutt DM,Balch WE

更新日期：2019-06-15 00:00:00

abstract：:The HLA class II (DRB1 and DQB1) associations with sarcoidosis have been studied by several groups but often without consistent results. In this paper, we consider the hypothesis that observed inconsistencies relate to distinct, genetically encoded disease phenotypes which differ in prevalence between centres. We ther...

journal_title：Human molecular genetics

authors： Sato H,Woodhead FA,Ahmad T,Grutters JC,Spagnolo P,van den Bosch JM,Maier LA,Newman LS,Nagai S,Izumi T,Wells AU,du Bois RM,Welsh KI

更新日期：2010-10-15 00:00:00

abstract：:This study provides first insights into the biosynthesis, structure, biochemistry and complex processing of the proteins encoded by hNOT/ALG3, the human counterpart of the Drosophila Neighbour of TID (NOT) and the yeast asparagine linked glycosylation 3 gene (ALG3), which encodes a mannosyltransferase. Unambiguous evi...

journal_title：Human molecular genetics

authors： Hacker B,Schultheiß C,Kurzik-Dumke U

更新日期：2018-12-15 00:00:00

abstract：:A genetic contribution to the pathogenesis of panic disorder has been demonstrated by clinical genetic studies. Molecular genetic studies have focused on candidate genes suggested by the molecular mechanisms implied in the action of drugs utilized for therapy or in challenge tests. One class of drugs effective in the ...

journal_title：Human molecular genetics

authors： Deckert J,Catalano M,Syagailo YV,Bosi M,Okladnova O,Di Bella D,Nöthen MM,Maffei P,Franke P,Fritze J,Maier W,Propping P,Beckmann H,Bellodi L,Lesch KP

更新日期：1999-04-01 00:00:00

abstract：:Epilepsy, deafness, onychodystrophy, osteodystrophy and intellectual disability are associated with a spectrum of mutations of human TBC1D24. The mechanisms underlying TBC1D24-associated disorders and the functions of TBC1D24 are not well understood. Using CRISPR-Cas9 genome editing, we engineered a mouse with a prema...

journal_title：Human molecular genetics

authors： Tona R,Chen W,Nakano Y,Reyes LD,Petralia RS,Wang YX,Starost MF,Wafa TT,Morell RJ,Cravedi KD,du Hoffmann J,Miyoshi T,Munasinghe JP,Fitzgerald TS,Chudasama Y,Omori K,Pierpaoli C,Banfi B,Dong L,Belyantseva IA,Friedma

更新日期：2019-05-01 00:00:00

abstract：:The gene encoding heterogeneous ribonucleoprotein (hnRNP) G recently has been mapped to the X chromosome. All mammals have a Y chromosome-encoded homologue of HNRNP G called RBMY, which is implicated with a role in male fertility and is a candidate for the azoospermia factor gene. We have identified a new member of th...

journal_title：Human molecular genetics

authors： Elliott DJ,Venables JP,Newton CS,Lawson D,Boyle S,Eperon IC,Cooke HJ

更新日期：2000-09-01 00:00:00

abstract：:In vitro fertilization (IVF), blastomere biopsy of the 6-8 cell embryo, and single cell DNA diagnosis allows couples at risk of transmitting an X-linked or autosomal disease to start a pregnancy knowing their child will not be affected. We present a quick and reliable nested PCR strategy for sex determination at the s...

journal_title：Human molecular genetics

authors： Chong SS,Kristjansson K,Cota J,Handyside AH,Hughes MR

更新日期：1993-08-01 00:00:00

abstract：:The DNA mismatch repair genes MSH2 and MLH1 have been shown to account for a major share of hereditary non-polyposis colorectal cancer (HNPCC). We searched for germline mutations in these genes in 35 HNPCC kindreds fulfilling the Amsterdam diagnostic criteria and in a further 20 kindreds with an average of four affect...

journal_title：Human molecular genetics

authors： Nyström-Lahti M,Wu Y,Moisio AL,Hofstra RM,Osinga J,Mecklin JP,Järvinen HJ,Leisti J,Buys CH,de la Chapelle A,Peltomäki P

更新日期：1996-06-01 00:00:00

abstract：:Missense mutations in the gene, MAP3K1, are a common cause of 46,XY gonadal dysgenesis, accounting for 15-20% of cases [Ostrer, 2014, Disorders of sex development (DSDs): an update. J. Clin. Endocrinol. Metab., 99, 1503-1509]. Functional studies demonstrated that all of these mutations cause a protein gain-of-function...

journal_title：Human molecular genetics

authors： Chamberlin A,Huether R,Machado AZ,Groden M,Liu HM,Upadhyay K,O V,Gomes NL,Lerario AM,Nishi MY,Costa EMF,Mendonca B,Domenice S,Velasco J,Loke J,Ostrer H

更新日期：2019-05-15 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：:In studies of genomic imprinting in the Prader-Willi/Angelman domain, an agouti coat color cassette was inserted into the downstream open reading frame (ORF) of the imprinted bicistronic Snurf-Snrpn locus in the mouse. The fusion gene was maternally silenced, as is Snurf-Snrpn, and produced a tan abdomen only when inh...

journal_title：Human molecular genetics

authors： Tsai TF,Chen KS,Weber JS,Justice MJ,Beaudet AL

更新日期：2002-07-01 00:00:00

abstract：:Dominant mutations in the gene encoding the ubiquitously-expressed splicing factor PRPF31 cause retinitis pigmentosa, a form of hereditary retinal degeneration, with reduced penetrance. We and others have previously shown that penetrance is tightly correlated with PRPF31 expression, as lymphoblastoid cell lines (LCLs)...

journal_title：Human molecular genetics

authors： Rio Frio T,Civic N,Ransijn A,Beckmann JS,Rivolta C

更新日期：2008-10-15 00:00:00

abstract：:Inherited mitochondrial optic neuropathies, such as Leber's hereditary optic neuropathy (LHON) and Autosomal dominant optic atrophy (ADOA) are caused by mutant mitochondrial proteins that lead to defects in mitochondrial complex 1-driven ATP synthesis, and cause specific retinal ganglion cell (RGC) loss. Complex 1 def...

journal_title：Human molecular genetics

authors： Yu AK,Datta S,McMackin MZ,Cortopassi GA

更新日期：2017-12-15 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：:Single nucleotide polymorphisms (SNPs) that alter exon splicing efficiency are an emerging class of functional genetic variants. Since mutations in low-density lipoprotein receptor (LDLR) are a primary cause of familial hypercholesterolemia, we evaluated whether LDLR SNPs may alter splicing efficiency and cholesterol ...

journal_title：Human molecular genetics

authors： Zhu H,Tucker HM,Grear KE,Simpson JF,Manning AK,Cupples LA,Estus S

更新日期：2007-07-15 00:00:00

abstract：:To investigate the putative role of BRCA1, a gene involved in hereditary breast and ovarian cancer, in sporadic ovarian tumors among Japanese women, we examined 76 unselected primary ovarian cancers for mutations in the coding region of BRCA1 using the single-strand conformation polymorphism technique. Although no som...

journal_title：Human molecular genetics

authors： Matsushima M,Kobayashi K,Emi M,Saito H,Saito J,Suzumori K,Nakamura Y

更新日期：1995-10-01 00:00:00

abstract：:Human homologues of mouse cancer modifier genes may play a role in cancer risk and prognosis. A proportion of the familial risk of common cancers may be attributable to variants in such genes, each contributing to a small effect. The protein tyrosine phosphatase receptor type J (PTPRJ) has been recently identified as ...

journal_title：Human molecular genetics

authors： Lesueur F,Pharoah PD,Laing S,Ahmed S,Jordan C,Smith PL,Luben R,Wareham NJ,Easton DF,Dunning AM,Ponder BA

更新日期：2005-08-15 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：: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：:Genomic imprinting is a phenomenon that causes parent-origin-specific monoallelic expression of a small subset of genes, known as imprinted genes, by parentally inherited epigenetic marks. Imprinted genes at the delta-like homolog 1 gene (Dlk1)-type III iodothyronine deiodinase gene (Dio3) imprinted domain, regulated ...

journal_title：Human molecular genetics

authors： Saito T,Hara S,Kato T,Tamano M,Muramatsu A,Asahara H,Takada S

更新日期：2018-09-15 00:00:00

abstract：:Complement receptor 1 (CR1) is an Alzheimer's disease (AD) susceptibility locus that also influences AD-related traits such as episodic memory decline and neuritic amyloid plaque deposition. We implemented a functional fine-mapping approach, leveraging intermediate phenotypes to identify functional variant(s) within t...

journal_title：Human molecular genetics

authors： Keenan BT,Shulman JM,Chibnik LB,Raj T,Tran D,Sabuncu MR,Alzheimer's Disease Neuroimaging Initiative.,Allen AN,Corneveaux JJ,Hardy JA,Huentelman MJ,Lemere CA,Myers AJ,Nicholson-Weller A,Reiman EM,Evans DA,Bennett DA,De J

更新日期：2012-05-15 00:00:00

abstract：:Beside the well-known polyglutamine expansions involved in several neurodegenerative disorders, convergent recent findings pointed to the expansion of polyalanine stretches as a disease mechanism in congenital malformations, skeletal dysplasia and nervous system anomalies. Polyalanine stretches have been predicted in ...

journal_title：Human molecular genetics

authors： Amiel J,Trochet D,Clément-Ziza M,Munnich A,Lyonnet S

更新日期：2004-10-01 00:00:00

abstract：:Reduced sarcolemmal integrity in dystrophin-deficient muscles of mdx mice and Duchenne muscular dystrophy (DMD) patients has been reported to result in altered calcium homeostasis. Previous studies have shown a correlative relationship between calcium-dependent protease (calpain) activity in dystrophic muscle and musc...

journal_title：Human molecular genetics

authors： Spencer MJ,Mellgren RL

更新日期：2002-10-01 00:00:00

abstract：:Ubiquinone (UQ), a.k.a. coenzyme Q, is a redox-active lipid that participates in several cellular processes, in particular mitochondrial electron transport. Primary UQ deficiency is a rare but severely debilitating condition. Mclk1 (a.k.a. Coq7) encodes a conserved mitochondrial enzyme that is necessary for UQ biosynt...

journal_title：Human molecular genetics

authors： Wang Y,Hekimi S

更新日期：2013-12-01 00:00:00

abstract：:Acetazolamide responsive hereditary paroxysmal cerebellar ataxia (APCA) is a rare autosomal dominant disorder characterized by attacks of cerebellar ataxia and dysarthria with normal or near normal neurologic function between attacks. A genome-wide search using polymorphic di- and tri-nucleotide repeats was initiated ...

journal_title：Human molecular genetics

authors： von Brederlow B,Hahn AF,Koopman WJ,Ebers GC,Bulman DE

更新日期：1995-02-01 00:00:00

abstract：:Histamine (HA) acts as a neurotransmitter in the brain, which participates in the regulation of many biological processes including inflammation, gastric acid secretion and neuromodulation. The enzyme histamine N-methyltransferase (HNMT) inactivates HA by transferring a methyl group from S-adenosyl-l-methionine to HA,...

journal_title：Human molecular genetics

authors： Heidari A,Tongsook C,Najafipour R,Musante L,Vasli N,Garshasbi M,Hu H,Mittal K,McNaughton AJ,Sritharan K,Hudson M,Stehr H,Talebi S,Moradi M,Darvish H,Arshad Rafiq M,Mozhdehipanah H,Rashidinejad A,Samiei S,Ghadami M,

更新日期：2015-10-15 00:00:00