Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.

abstract：:Mutations in the human PAX6 gene produce various phenotypes, including aniridia, Peters' anomaly, autosomal dominant keratitis and familial foveal dysplasia. The various phenotypes may arise from different mutations in the same gene. To test this theory, we performed a functional analysis of two missense mutations in ...

journal_title：Human molecular genetics

authors： Tang HK,Chao LY,Saunders GF

更新日期：1997-03-01 00:00:00

abstract：:17p13.3 microduplication syndrome is a newly identified genetic disorder characterized by duplications in the 17p13.3 chromosome locus, resulting in a variety of disorders including autism spectrum disorder (ASD). Importantly, a minimum duplication region has been defined, and this region exclusively contains the gene...

journal_title：Human molecular genetics

authors： Cornell B,Wachi T,Zhukarev V,Toyo-Oka K

更新日期：2016-10-15 00:00:00

abstract：:We recently reported that mutations in the widely expressed nuclear protein TOPORS (topoisomerase I-binding arginine/serine rich) are associated with autosomal dominant retinal degeneration. However, the precise localization and a functional role of TOPORS in the retina remain unknown. Here, we demonstrate that TOPORS...

journal_title：Human molecular genetics

authors： Chakarova CF,Khanna H,Shah AZ,Patil SB,Sedmak T,Murga-Zamalloa CA,Papaioannou MG,Nagel-Wolfrum K,Lopez I,Munro P,Cheetham M,Koenekoop RK,Rios RM,Matter K,Wolfrum U,Swaroop A,Bhattacharya SS

更新日期：2011-03-01 00:00:00

abstract：:Protein-protein interactions are fundamental to all biological processes, and a comprehensive determination of all protein-protein interactions that can take place in an organism provides a framework for understanding biology as an integrated system. The availability of genome-scale sets of cloned open reading frames ...

journal_title：Human molecular genetics

authors： Cusick ME,Klitgord N,Vidal M,Hill DE

更新日期：2005-10-15 00:00:00

abstract：:Familial exudative vitreoretinopathy (FEVR) belongs to a group of genetically and clinically heterogeneous disorders in retinal vascular development. To date, in approximately 50% of patients with FEVR, pathogenic mutations have been detected in FZD4, LRP5, TSPAN12, NDP and ZNF408. In this study, we identified two het...

journal_title：Human molecular genetics

authors： Wu JH,Liu JH,Ko YC,Wang CT,Chung YC,Chu KC,Liu TT,Chao HM,Jiang YJ,Chen SJ,Chung MY

更新日期：2016-04-15 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：:Mutations in glucokinase (GCK) cause a spectrum of glycemic disorders. Heterozygous loss-of-function mutations cause mild fasting hyperglycemia irrespective of mutation severity due to compensation from the unaffected allele. Conversely, homozygous loss-of-function mutations cause permanent neonatal diabetes requiring...

journal_title：Human molecular genetics

authors： Raimondo A,Chakera AJ,Thomsen SK,Colclough K,Barrett A,De Franco E,Chatelas A,Demirbilek H,Akcay T,Alawneh H,International NDM Consortium.,Flanagan SE,Van De Bunt M,Hattersley AT,Gloyn AL,Ellard S,International NDM Consor

更新日期：2014-12-15 00:00:00

abstract：:Huntington's disease (HD) is caused by the expansion mutation above a length threshold of a polyglutamine (polyQ) stretch in the huntingtin (Htt) protein. Mutant Htt (mHtt) pathogenicity is proposed to rely on its malfunction and propensity to misfold and aggregate. Htt has scaffolding properties and has been reported...

journal_title：Human molecular genetics

authors： Davranche A,Aviolat H,Zeder-Lutz G,Busso D,Altschuh D,Trottier Y,Klein FA

更新日期：2011-07-15 00:00:00

abstract：:Despite significant progress in the identification of genetic loci for age-related macular degeneration (AMD), not all of the heritability has been explained. To identify variants which contribute to the remaining genetic susceptibility, we performed the largest meta-analysis of genome-wide association studies to date...

journal_title：Human molecular genetics

authors： Yu Y,Bhangale TR,Fagerness J,Ripke S,Thorleifsson G,Tan PL,Souied EH,Richardson AJ,Merriam JE,Buitendijk GH,Reynolds R,Raychaudhuri S,Chin KA,Sobrin L,Evangelou E,Lee PH,Lee AY,Leveziel N,Zack DJ,Campochiaro B,Cam

更新日期：2011-09-15 00:00:00

abstract：:Positional cloning has previously resulted in the identification of a gene which is disrupted by deletions in patients with the classic choroideremia (CHM) phenotype. More subtle mutations had been identified in 4 exons of the 3' portion but not elsewhere in the CHM gene. We have now isolated and characterized the com...

journal_title：Human molecular genetics

authors： van Bokhoven H,van den Hurk JA,Bogerd L,Philippe C,Gilgenkrantz S,de Jong P,Ropers HH,Cremers FP

更新日期：1994-07-01 00:00:00

abstract：:Cilia are evolutionarily conserved organelles endowed with essential physiological and developmental functions. In humans, disruption of cilia motility or signaling leads to complex pleiotropic genetic disorders called ciliopathies. Cilia motility requires the assembly of multi-subunit motile components such as dynein...

journal_title：Human molecular genetics

authors： Jerber J,Baas D,Soulavie F,Chhin B,Cortier E,Vesque C,Thomas J,Durand B

更新日期：2014-02-01 00:00:00

abstract：:Biased segregation of mitochondrial DNA variants has been widely documented, but little was known about its molecular basis. We set out to test the hypothesis that altering the balance between mitochondrial fusion and fission could influence the segregation of mutant and wild-type mtDNA variants, because it would modi...

journal_title：Human molecular genetics

authors： Malena A,Loro E,Di Re M,Holt IJ,Vergani L

更新日期：2009-09-15 00:00:00

abstract：:Human GM1-gangliosidosis is caused by a genetic deficiency of lysosomal acid beta-galactosidase (beta-gal). The disease manifests itself either as an infantile, juvenile or adult form and is primarily a neurological disorder with progressive brain dysfunction. A mouse model lacking a functional beta-gal gene has been ...

journal_title：Human molecular genetics

authors： Hahn CN,del Pilar Martin M,Schröder M,Vanier MT,Hara Y,Suzuki K,Suzuki K,d'Azzo A

更新日期：1997-02-01 00:00:00

abstract：:The autosomal-recessive mutation hydrocephalus3 (hy3) results in lethal communicating hydrocephalus with perinatal onset. We recently described a hydrocephalus-inducing transgenic insertional mutation, OVE459, which represents a new allele of hy3. Direct cDNA selection performed on a wild-type mouse BAC clone spanning...

journal_title：Human molecular genetics

authors： Davy BE,Robinson ML

更新日期：2003-05-15 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：:Meiotic crossovers in the human genome cluster into highly localized hotspots identifiable indirectly from patterns of DNA diversity and directly by high-resolution sperm typing. Little is known about factors that control hotspot activity and the apparently rapid turnover of hotspots during recent evolution. Clues can...

journal_title：Human molecular genetics

authors： Neumann R,Jeffreys AJ

更新日期：2006-05-01 00:00:00

abstract：:Proteolytic fragmentation of polyglutamine-expanded ataxin-3 is a concomitant and modifier of the molecular pathogenesis of Machado-Joseph disease (MJD), the most common autosomal dominant cerebellar ataxia. Calpains, a group of calcium-dependent cysteine proteases, are important mediators of ataxin-3 cleavage and imp...

journal_title：Human molecular genetics

authors： Weber JJ,Haas E,Maringer Y,Hauser S,Casadei NLP,Chishti AH,Riess O,Hübener-Schmid J

更新日期：2020-04-15 00:00:00

abstract：:Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by mutations in either of two genes, TSC1 or TSC2, resulting in the constitutive activation of the mammalian target of rapamycin complex 1 (mTORC1). mTOR inhibitors are now considered the treatment of choice for TSC disease. A major path...

journal_title：Human molecular genetics

authors： Magini A,Polchi A,Di Meo D,Mariucci G,Sagini K,De Marco F,Cassano T,Giovagnoli S,Dolcetta D,Emiliani C

更新日期：2017-09-01 00:00:00

abstract：:Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as 'seipinopathies'. Previous in vitro studies have shown that seipinopathy-linked m...

journal_title：Human molecular genetics

authors： Yagi T,Ito D,Nihei Y,Ishihara T,Suzuki N

更新日期：2011-10-01 00:00:00

abstract：:Multiple studies have underscored the importance of loss of tumor suppressor genes in the development of human cancer. To identify these genes, we used somatic cell hybrids in a functional assay for tumor suppression in vivo. A tumor suppressor gene in 11p15.5 was detected by transferring single human chromosomes into...

journal_title：Human molecular genetics

authors： Reid LH,West A,Gioeli DG,Phillips KK,Kelleher KF,Araujo D,Stanbridge EJ,Dowdy SF,Gerhard DS,Weissman BE

更新日期：1996-02-01 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：:Huntingtin-associated protein 1 (Hap1) is the first huntingtin interacting protein identified in a yeast two-hybrid screen. Although Hap1 expression has been demonstrated in neuronal and non-neuronal tissues, its molecular role is poorly understood. Recently, it has been shown that targeted disruption of Hap1 in mice ...

journal_title：Human molecular genetics

authors： Dragatsis I,Zeitlin S,Dietrich P

更新日期：2004-12-15 00:00:00

abstract：:alpha2-Macroglobulin (A2M) is a proteinase inhibitor found in association with senile plaques (SP) in Alzheimer's disease (AD). A2M has been implicated biochemically in binding and degradation of the amyloid beta (Abeta) protein which accumulates in SP. We studied the relationship between Alzheimer's disease and a com...

journal_title：Human molecular genetics

authors： Liao A,Nitsch RM,Greenberg SM,Finckh U,Blacker D,Albert M,Rebeck GW,Gomez-Isla T,Clatworthy A,Binetti G,Hock C,Mueller-Thomsen T,Mann U,Zuchowski K,Beisiegel U,Staehelin H,Growdon JH,Tanzi RE,Hyman BT

更新日期：1998-11-01 00:00:00

abstract：:Ciliary trafficking defects underlie the pathogenesis of severe human ciliopathies, including Joubert Syndrome (JBTS), Bardet-Biedl Syndrome, and some forms of retinitis pigmentosa (RP). Mutations in the ciliary protein RPGR (retinitis pigmentosa GTPase regulator) are common causes of RP-associated photoreceptor degen...

journal_title：Human molecular genetics

authors： Rao KN,Zhang W,Li L,Anand M,Khanna H

更新日期：2016-10-15 00:00:00

abstract：:Many genetic mutations have been identified as monogenic causes of nephrotic syndrome (NS), but important knowledge gaps exist in the roles of these genes in kidney cell biology and renal diseases. More animal models are needed to assess the functions of these genes in vivo, and to determine how they cause NS in a tim...

journal_title：Human molecular genetics

authors： Fu Y,Zhu JY,Richman A,Zhao Z,Zhang F,Ray PE,Han Z

更新日期：2017-02-15 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：: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：:Huntington's disease is a devastating neurodegenerative condition associated with the formation of intraneuronal aggregates by mutant huntingtin. Aggregate formation is a property shared by the nine related diseases caused by polyglutamine codon expansion mutations and also by other neurodegenerative conditions like P...

journal_title：Human molecular genetics

authors： Vacher C,Garcia-Oroz L,Rubinsztein DC

更新日期：2005-11-15 00:00:00

abstract：:Deletion of the distal short arm of chromosome 9 (9p) has been reported in a number of cases to be associated with gonadal dysgenesis and XY sex reversal, suggesting that this region contains one or more genes required in two copies for normal testis development. Recent studies have greatly narrowed the interval conta...

journal_title：Human molecular genetics

authors： Raymond CS,Parker ED,Kettlewell JR,Brown LG,Page DC,Kusz K,Jaruzelska J,Reinberg Y,Flejter WL,Bardwell VJ,Hirsch B,Zarkower D

更新日期：1999-06-01 00:00:00

abstract：:Extracellular deposition of amyloid-beta (Aβ) peptide, a metabolite of sequential cleavage of amyloid precursor protein (APP), is a critical step in the pathogenesis of Alzheimer's disease (AD). While death-associated protein kinase 1 (DAPK1) is highly expressed in AD brains and its genetic variants are linked to AD r...

journal_title：Human molecular genetics

authors： Kim BM,You MH,Chen CH,Suh J,Tanzi RE,Ho Lee T

更新日期：2016-06-15 00:00:00