The huntingtin N17 domain is a multifunctional CRM1 and Ran-dependent nuclear and cilial export signal.

abstract：:Autosomal dominant familial spastic paraplegia (FSP) is a genetically heterogeneous neurodegenerative disorder displaying anticipation for which three loci have been mapped to the chromosomal positions 14q11.2-q24.3 (SPG3), 2p21-p24 (SPG4) and 15q11.1 (SPG6). The repeat expansion detection (RED) method has been used t...

journal_title：Human molecular genetics

authors： Benson KF,Horwitz M,Wolff J,Friend K,Thompson E,White S,Richards RI,Raskind WH,Bird TD

更新日期：1998-10-01 00:00:00

abstract：:Determination of variant pathogenicity represents a major challenge in the era of high-throughput sequencing. Erroneous categorization may result if variants affect genes that are in fact dispensable. We demonstrate that this also applies to rare, apparently unambiguous truncating mutations of an established disease g...

journal_title：Human molecular genetics

authors： Elsayed SM,Phillips JB,Heller R,Thoenes M,Elsobky E,Nürnberg G,Nürnberg P,Seland S,Ebermann I,Altmüller J,Thiele H,Toliat M,Körber F,Hu XJ,Wu YD,Zaki MS,Abdel-Salam G,Gleeson J,Boltshauser E,Westerfield M,Bolz HJ

更新日期：2015-05-01 00:00:00

abstract：:A susceptibility locus for coronary artery disease (CAD) at chromosome 9p21 has recently been reported, which may influence the age of onset of CAD. We sought to replicate these findings among white subjects and to examine whether these results are consistent with other racial/ethnic groups by genotyping three single ...

journal_title：Human molecular genetics

authors： Assimes TL,Knowles JW,Basu A,Iribarren C,Southwick A,Tang H,Absher D,Li J,Fair JM,Rubin GD,Sidney S,Fortmann SP,Go AS,Hlatky MA,Myers RM,Risch N,Quertermous T

更新日期：2008-08-01 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin along muscle fibers. An attractive therapeutic avenue for DMD consists in the upregulation of utrophin A, a protein with high sequence identity and functional redundancy with dystrophin. Recent work has shown that pharmacological interventions th...

journal_title：Human molecular genetics

authors： Al-Rewashdy H,Ljubicic V,Lin W,Renaud JM,Jasmin BJ

更新日期：2015-03-01 00:00:00

abstract：:Bipolar disorder (BD) is a genetically complex mental illness characterized by severe oscillations of mood and behaviour. Genome-wide association studies (GWAS) have identified several risk loci that together account for a small portion of the heritability. To identify additional risk loci, we performed a two-stage me...

journal_title：Human molecular genetics

authors： Hou L,Bergen SE,Akula N,Song J,Hultman CM,Landén M,Adli M,Alda M,Ardau R,Arias B,Aubry JM,Backlund L,Badner JA,Barrett TB,Bauer M,Baune BT,Bellivier F,Benabarre A,Bengesser S,Berrettini WH,Bhattacharjee AK,Biern

更新日期：2016-08-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) is a devastating, adult-onset neurodegenerative disorder of the upper and lower motor systems. It leads to paresis, muscle wasting and inevitably to death, typically within 3-5 years. However, disease onset and survival vary considerably ranging in extreme cases from a few months to...

journal_title：Human molecular genetics

authors： Eschbach J,Schwalenstöcker B,Soyal SM,Bayer H,Wiesner D,Akimoto C,Nilsson AC,Birve A,Meyer T,Dupuis L,Danzer KM,Andersen PM,Witting A,Ludolph AC,Patsch W,Weydt P

更新日期：2013-09-01 00:00:00

abstract：:The purpose of this study was to investigate the link between mutant huntingtin (Htt) and neuronal damage in relation to mitochondria in Huntington's disease (HD). In an earlier study, we determined the relationship between mutant Htt and mitochondrial dynamics/synaptic viability in HD patients. We found mitochondrial...

journal_title：Human molecular genetics

authors： Shirendeb UP,Calkins MJ,Manczak M,Anekonda V,Dufour B,McBride JL,Mao P,Reddy PH

更新日期：2012-01-15 00:00:00

abstract：:Imprinting is an epigenetic mechanism leading to mono-allelic expression of imprinted genes. In order to inherit the differential epigenetic imprints from one generation to the next, these imprints have to be erased in the primordial germ cells and re-established in a sex-specific manner during gametogenesis. The exac...

journal_title：Human molecular genetics

authors： Geuns E,De Rycke M,Van Steirteghem A,Liebaers I

更新日期：2003-11-15 00:00:00

abstract：:Spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality. SMA is caused by loss of functional survival motor neuron 1 (SMN1), resulting in death of spinal motor neurons. Current therapeutic research focuses on modulating the expression of a partially functioning copy gene, SMN2, which is reta...

journal_title：Human molecular genetics

authors： Rose FF Jr,Mattis VB,Rindt H,Lorson CL

更新日期：2009-03-15 00:00:00

abstract：:Mutations in enzymes involved in sphingolipid metabolism and trafficking cause a variety of neurological disorders, but details of the molecular pathophysiology remain obscure. SPTLC1 encodes one subunit of serine palmitoyltransferase (SPT), the rate-limiting enzyme in sphingolipid synthesis. Mutations in SPTLC1 cause...

journal_title：Human molecular genetics

authors： McCampbell A,Truong D,Broom DC,Allchorne A,Gable K,Cutler RG,Mattson MP,Woolf CJ,Frosch MP,Harmon JM,Dunn TM,Brown RH Jr

更新日期：2005-11-15 00:00:00

abstract：:The extracellular microfibril, 10-14 nm in diameter, performs a number of functions, including serving as the scaffolding for deposition of tropoelastin to form elastic fibers. A variety of proteins compose the structure of microfibrils, the most prominent of which are the two fibrillins. Fibrillin-1 is encoded by FBN...

journal_title：Human molecular genetics

authors： Dietz HC,Pyeritz RE

更新日期：1995-01-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified several common loci contributing to non-obstructive azoospermia (NOA). However, a substantial fraction of NOA heritability remains undefined, especially those low-frequency [defined here as having a minor allele frequency (MAF) between 0.5 and 5%] and rare (MAF be...

journal_title：Human molecular genetics

authors： Ni B,Lin Y,Sun L,Zhu M,Li Z,Wang H,Yu J,Guo X,Zuo X,Dong J,Xia Y,Wen Y,Wu H,Li H,Zhu Y,Ping P,Chen X,Dai J,Jiang Y,Xu P,Du Q,Yao B,Weng N,Lu H,Wang Z,Zhu X,Yang X,Xiong C,Ma H,Jin G,Xu J,Wang

更新日期：2015-10-01 00:00:00

abstract：:Induced pluripotent stem cell (iPSC)-derived cortical neurons potentially present a powerful new model to understand corticogenesis and neurological disease. Previous work has established that differentiation protocols can produce cortical neurons, but little has been done to characterize these at cellular resolution....

journal_title：Human molecular genetics

authors： Handel AE,Chintawar S,Lalic T,Whiteley E,Vowles J,Giustacchini A,Argoud K,Sopp P,Nakanishi M,Bowden R,Cowley S,Newey S,Akerman C,Ponting CP,Cader MZ

更新日期：2016-03-01 00:00:00

abstract：:Microdeletion at chromosomal position 15q13.3 has been described in intellectual disability, autism spectrum disorders, schizophrenia and recently in idiopathic generalized epilepsy (IGE). Using independent IGE cohorts, we first aimed to confirm the association of 15q13.3 deletions and IGE. We then set out to determin...

journal_title：Human molecular genetics

authors： Dibbens LM,Mullen S,Helbig I,Mefford HC,Bayly MA,Bellows S,Leu C,Trucks H,Obermeier T,Wittig M,Franke A,Caglayan H,Yapici Z,EPICURE Consortium.,Sander T,Eichler EE,Scheffer IE,Mulley JC,Berkovic SF

更新日期：2009-10-01 00:00:00

abstract：:5-Methylcytosine (5mC), generated through the covalent addition of a methyl group to the fifth carbon of cytosine, is the most prevalent DNA modification in humans and functions as a critical player in the regulation of tissue and cell-specific gene expression. 5mC can be oxidized to 5-hydroxymethylcytosine (5hmC) by ...

journal_title：Human molecular genetics

authors： Qin L,Xu Q,Li Z,Chen L,Li Y,Yang N,Liu Z,Guo J,Shen L,Allen EG,Chen C,Ma C,Wu H,Zhu X,Jin P,Tang B

更新日期：2020-01-01 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 gene HIC1 (hypermethylated in cancer) maps to chromosome 17p13.3 and is deleted in the contiguous gene disorder Miller-Dieker syndrome (MDS) [Makos-Wales et al. (1995) Nature Med., 1, 570-577; Chong et al. (1996) Genome Res., 6, 735-741]. We isolated the murine homologue Hic1, encoding a zinc-finger protein ...

journal_title：Human molecular genetics

authors： Grimm C,Spörle R,Schmid TE,Adler ID,Adamski J,Schughart K,Graw J

更新日期：1999-04-01 00:00:00

abstract：:Poly(ADP-ribose) polymerase 2 (PARP-2) is a newly discovered member of the PARP family. We report the association of PARP-2 with mammalian centromeres in a cell-cycle-dependent manner, accumulating at centromeres during prometaphase and metaphase, disassociating during anaphase, and disappearing from the centromeres b...

journal_title：Human molecular genetics

authors： Saxena A,Wong LH,Kalitsis P,Earle E,Shaffer LG,Choo KH

更新日期：2002-09-15 00:00:00

abstract：:Deletions within the neurexin 1 gene (NRXN1; 2p16.3) are associated with autism and have also been reported in two families with schizophrenia. We examined NRXN1, and the closely related NRXN2 and NRXN3 genes, for copy number variants (CNVs) in 2977 schizophrenia patients and 33 746 controls from seven European popula...

journal_title：Human molecular genetics

authors： Rujescu D,Ingason A,Cichon S,Pietiläinen OP,Barnes MR,Toulopoulou T,Picchioni M,Vassos E,Ettinger U,Bramon E,Murray R,Ruggeri M,Tosato S,Bonetto C,Steinberg S,Sigurdsson E,Sigmundsson T,Petursson H,Gylfason A,Olason

更新日期：2009-03-01 00:00:00

abstract：:Ciliary trafficking defects are the underlying cause of many ciliopathies, including Retinitis Pigmentosa (RP). Anterograde intraflagellar transport (IFT) is mediated by kinesin motor proteins; however, the function of the homodimeric Kif17 motor in cilia is poorly understood, whereas Kif7 is known to play an importan...

journal_title：Human molecular genetics

authors： Schwarz N,Lane A,Jovanovic K,Parfitt DA,Aguila M,Thompson CL,da Cruz L,Coffey PJ,Chapple JP,Hardcastle AJ,Cheetham ME

更新日期：2017-07-01 00:00:00

abstract：:Rod and cone photoreceptors in mammalian retina are generated from common pool(s) of neuroepithelial progenitors. NRL, CRX and NR2E3 are key transcriptional regulators that control photoreceptor differentiation. Mutations in NR2E3, a rod-specific orphan nuclear receptor, lead to loss of rods, increased density of S-co...

journal_title：Human molecular genetics

authors： Cheng H,Aleman TS,Cideciyan AV,Khanna R,Jacobson SG,Swaroop A

更新日期：2006-09-01 00:00:00

abstract：:Lysosomes, melanosomes and platelet-dense granules are abnormal in the mouse hypopigmentation mutant pearl. The beta3A subunit of the AP-3 adaptor complex, which likely regulates protein trafficking in the trans - Golgi network/endosomal compartments, was identified as a candidate for the pearl gene by a positional/ca...

journal_title：Human molecular genetics

authors： Feng L,Seymour AB,Jiang S,To A,Peden AA,Novak EK,Zhen L,Rusiniak ME,Eicher EM,Robinson MS,Gorin MB,Swank RT

更新日期：1999-02-01 00:00:00

abstract：:A large number of mutations in the gene encoding the catalytic subunit of mitochondrial DNA polymerase γ (POLγA) cause human disease. The Y955C mutation is common and leads to a dominant disease with progressive external ophthalmoplegia and other symptoms. The biochemical effect of the Y955C mutation has been extensiv...

journal_title：Human molecular genetics

authors： Atanassova N,Fusté JM,Wanrooij S,Macao B,Goffart S,Bäckström S,Farge G,Khvorostov I,Larsson NG,Spelbrink JN,Falkenberg M

更新日期：2011-03-15 00:00:00

abstract：:Muscle-eye-brain disease (MEB), an autosomal recessive disorder prevalent in Finland, is characterized by congenital muscular dystrophy, brain malformation and ocular abnormalities. Since the MEB phenotype overlaps substantially with those of Fukuyama-type congenital muscular dystrophy (FCMD) and Walker-Warburg syndro...

journal_title：Human molecular genetics

authors： Taniguchi K,Kobayashi K,Saito K,Yamanouchi H,Ohnuma A,Hayashi YK,Manya H,Jin DK,Lee M,Parano E,Falsaperla R,Pavone P,Van Coster R,Talim B,Steinbrecher A,Straub V,Nishino I,Topaloglu H,Voit T,Endo T,Toda T

更新日期：2003-03-01 00:00:00

abstract：:Genomic imprinting is a phenomenon whereby monoallelic gene expression occurs in a parent-of-origin-specific manner. A subset of imprinted genes acquires a tissue-specific imprinted status during the course of tissue development, and this process can be analyzed by means of an in vitro differentiation system utilizing...

journal_title：Human molecular genetics

authors： Kohama C,Kato H,Numata K,Hirose M,Takemasa T,Ogura A,Kiyosawa H

更新日期：2012-03-15 00:00:00

abstract：:Lethal white foal syndrome (LWFS) is a congenital anomaly of horses characterized by a white coat colour and aganglionosis of the bowel, which is similar to Hirschsprung disease (HSCR). We decided to investigate possible mutations of the endothelin-B receptor gene ( EDNRB ) in LWFS as recent studies in mutant rodents ...

journal_title：Human molecular genetics

authors： Yang GC,Croaker D,Zhang AL,Manglick P,Cartmill T,Cass D

更新日期：1998-06-01 00:00:00

abstract：:The von Hippel-Lindau (VHL) tumour suppressorgene product is believed to be involved in the down-regulation of transcriptional elongation by preventing the association of elongin B and C with the catalytic subunit elongin A. Alterations in the human VHL gene lead to VHL disease which is associated with various rare ne...

journal_title：Human molecular genetics

authors： Hemberger M,Himmelbauer H,Neumann HP,Plate KH,Schwarzkopf G,Fundele R

更新日期：1999-02-01 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：:Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by polyglutamine expansion in the disease protein, huntingtin. In HD patients and transgenic mice, the affected neurons form characteristic ubiquitin-positive nuclear inclusions (NIs). We have established ecdysone-inducible stable mou...

journal_title：Human molecular genetics

authors： Jana NR,Tanaka M,Wang Gh,Nukina N

更新日期：2000-08-12 00:00:00

abstract：:Junctional epidermolysis bullosa inversa is an autosomal recessive blistering skin disease with an ultrastructural hemidesmosome defect similar to that of the Herlitz disease, yet with a non-lethal and different course of the disease. Its delineation is based on five geographically associated Norwegian families where ...

journal_title：Human molecular genetics

authors： Gedde-Dahl T Jr,Dupuy BM,Jonassen R,Winberg JO,Anton-Lamprecht I,Olaisen B

更新日期：1994-08-01 00:00:00