Huntingtin has a membrane association signal that can modulate huntingtin aggregation, nuclear entry and toxicity.

abstract：:Ataxia oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia. The gene mutated in AOA2, SETX, encodes senataxin, a putative DNA/RNA helicase which shares high homology to the yeast Sen1p protein and has been shown to play a role ...

journal_title：Human molecular genetics

authors： Suraweera A,Lim Y,Woods R,Birrell GW,Nasim T,Becherel OJ,Lavin MF

更新日期：2009-09-15 00:00:00

abstract：:Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13. Affected individuals exhibit neonatal hypotonia, developmental delay and childhood-onset obesity. Necdin, a protein implicated in the terminal differentiation of neurons, is the only PWS candidate gene to reduce...

journal_title：Human molecular genetics

authors： Lee S,Kozlov S,Hernandez L,Chamberlain SJ,Brannan CI,Stewart CL,Wevrick R

更新日期：2000-07-22 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：:The childhood motor neuron disease spinal muscular atrophy (SMA) results from reduced expression of the survival motor neuron (SMN) gene. Previous studies using in vitro model systems and lower organisms have suggested that low levels of Smn protein disrupt prenatal developmental processes in lower motor neurons, infl...

journal_title：Human molecular genetics

authors： Murray LM,Lee S,Bäumer D,Parson SH,Talbot K,Gillingwater TH

更新日期：2010-02-01 00:00:00

abstract：:Human chromosome 15q11-13 is a complex locus containing imprinted genes as well as a cluster of three GABA(A) receptor subunit (GABR) genes-GABRB3, GABRA5 and GABRG3. Deletion or duplication of 15q11-13 GABR genes occurs in multiple human neurodevelopmental disorders including Prader-Willi syndrome (PWS), Angelman syn...

journal_title：Human molecular genetics

authors： Hogart A,Nagarajan RP,Patzel KA,Yasui DH,Lasalle JM

更新日期：2007-03-15 00:00:00

abstract：:Losing of ovarian functions prior to natural menopause age causes female infertility and early menopause. Premature ovarian insufficiency (POI) is defined as the loss of ovarian activity before 40 years of age. Known genetic causes account for 25-30% of POI cases, demonstrating the high genetic heterogeneity of POI an...

journal_title：Human molecular genetics

authors： Chen Q,Ke H,Luo X,Wang L,Wu Y,Tang S,Li J,Jin L,Zhang F,Qin Y,Chen X

更新日期：2020-09-29 00:00:00

abstract：:Oculodentodigital syndrome (ODD) is a congenital, autosomal dominant disorder which affects the development of the face, eyes, limbs and dentition. Spastic paraparesis is thought to be an occasional manifestation of the disorder. Type III syndactyly, which occurs as part of ODD, has also been reported to occur as an i...

journal_title：Human molecular genetics

authors： Gladwin A,Donnai D,Metcalfe K,Schrander-Stumpel C,Brueton L,Verloes A,Aylsworth A,Toriello H,Winter R,Dixon M

更新日期：1997-01-01 00:00:00

abstract：:A spectrum of complex oligogenic disorders called the ciliopathies have been connected to dysfunction of cilia. Among the ciliopathies are Nephronophthisis (NPHP), characterized by cystic kidney disease and retinal degeneration, and Meckel-Gruber syndrome (MKS), a gestational lethal condition with skeletal abnormaliti...

journal_title：Human molecular genetics

authors： Masyukova SV,Winkelbauer ME,Williams CL,Pieczynski JN,Yoder BK

更新日期：2011-08-01 00:00:00

abstract：:A cDNA for Fanconi anaemia complementation group C (FACC) has recently been cloned. We have now isolated a yeast artificial chromosome clone containing the FACC gene, and used vectorette PCR to determine its exon structure. The 1674-nucleotide coding sequence of the gene is highly interrupted, and contains 14 exons ra...

journal_title：Human molecular genetics

authors： Gibson RA,Buchwald M,Roberts RG,Mathew CG

更新日期：1993-01-01 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：:Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is clinically and genetically heterogeneous and can appear as syndromic or non-syndromic. Mucopolysaccharidosis type IIIC (MPS IIIC) is a lethal disorder, caused by mutations in the heparan-alpha-glucosaminide N-acetyltransferase (HGSNA...

journal_title：Human molecular genetics

authors： Haer-Wigman L,Newman H,Leibu R,Bax NM,Baris HN,Rizel L,Banin E,Massarweh A,Roosing S,Lefeber DJ,Zonneveld-Vrieling MN,Isakov O,Shomron N,Sharon D,Den Hollander AI,Hoyng CB,Cremers FP,Ben-Yosef T

更新日期：2015-07-01 00:00:00

abstract：:The chromosome 22q11 region is susceptible to rearrangements that are associated with congenital anomaly disorders and malignant tumors. Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, ...

journal_title：Human molecular genetics

authors： Edelmann L,Pandita RK,Spiteri E,Funke B,Goldberg R,Palanisamy N,Chaganti RS,Magenis E,Shprintzen RJ,Morrow BE

更新日期：1999-07-01 00:00:00

abstract：:Large expansions of hexanucleotide GGGGCC (G4C2) repeats (hundreds to thousands) in the first intron of the chromosome 9 open reading frame 72 (C9orf72) locus are the strongest known genetic factor associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Different hypotheses exist about the...

journal_title：Human molecular genetics

authors： Swaminathan A,Bouffard M,Liao M,Ryan S,Callister JB,Pickering-Brown SM,Armstrong GAB,Drapeau P

更新日期：2018-05-15 00:00:00

abstract：:Karyotypical alteration of chromosome 5 and in particular band 5q13 is a frequent finding in hairy cell leukemia (HCL). We have previously identified a number of candidate genes localized in close proximity to a constitutional inv(5)(p13.1q13.3) breakpoint in one HCL patient. These included beta-hexosaminodase HEXB, f...

journal_title：Human molecular genetics

authors： Hammarsund M,Lerner M,Zhu C,Merup M,Jansson M,Gahrton G,Kluin-Nelemans H,Einhorn S,Grandér D,Sangfelt O,Corcoran M

更新日期：2004-12-01 00:00:00

abstract：:NPHP4 mutations cause nephronophthisis, an autosomal recessive cystic kidney disease associated with renal fibrosis and kidney failure. The NPHP4 gene product nephrocystin-4 interacts with other nephrocystins, cytoskeletal and ciliary proteins; however, the molecular and cellular functions of nephrocystin-4 have remai...

journal_title：Human molecular genetics

authors： Slanchev K,Pütz M,Schmitt A,Kramer-Zucker A,Walz G

更新日期：2011-08-15 00:00:00

abstract：:X-linked dilated cardiomyopathy (XLDCM) is a clinical phenotype of dystrophinopathy which is characterized by preferential myocardial involvement without any overt clinical signs of skeletal myopathy. To date, several mutations in the Duchenne muscular dystrophy gene, DMD , have been identified in patients with XLDCM,...

journal_title：Human molecular genetics

authors： Yoshida K,Nakamura A,Yazaki M,Ikeda S,Takeda S

更新日期：1998-07-01 00:00:00

abstract：:Defects in FAM161A, a protein of unknown function localized at the cilium of retinal photoreceptor cells, cause retinitis pigmentosa, a form of hereditary blindness. By using different fragments of this protein as baits to screen cDNA libraries of human and bovine retinas, we defined a yeast two-hybrid-based FAM161A i...

journal_title：Human molecular genetics

authors： Di Gioia SA,Farinelli P,Letteboer SJ,Arsenijevic Y,Sharon D,Roepman R,Rivolta C

更新日期：2015-06-15 00:00:00

abstract：:Osteoarthritis (OA) is a common, painful and debilitating disease of articulating joints resulting from the age-associated loss of cartilage. Well-powered genetic studies have identified a number of DNA polymorphisms that are associated with OA susceptibility. Like most complex trait loci, these OA loci are thought to...

journal_title：Human molecular genetics

authors： Rushton MD,Reynard LN,Young DA,Shepherd C,Aubourg G,Gee F,Darlay R,Deehan D,Cordell HJ,Loughlin J

更新日期：2015-12-20 00:00:00

abstract：:Sonic Hedgehog (SHH) is one of the most intensively studied genes in developmental biology. It is a highly conserved gene, found in species as diverse as arthropods and mammals. The mammalian SHH encodes a signaling molecule that plays a central role in developmental patterning, especially of the nervous system and th...

journal_title：Human molecular genetics

authors： Dorus S,Anderson JR,Vallender EJ,Gilbert SL,Zhang L,Chemnick LG,Ryder OA,Li W,Lahn BT

更新日期：2006-07-01 00:00:00

abstract：:Elevated blood pressure (BP) is a major global risk factor for cardiovascular disease. Genome-wide association studies have identified several genetic variants at the NPR3 locus associated with BP, but the functional impact of these variants remains to be determined. Here we confirmed, by a genome-wide association stu...

journal_title：Human molecular genetics

authors： Ren M,Ng FL,Warren HR,Witkowska K,Baron M,Jia Z,Cabrera C,Zhang R,Mifsud B,Munroe PB,Xiao Q,Townsend-Nicholson A,Hobbs AJ,Ye S,Caulfield MJ

更新日期：2018-01-01 00:00:00

abstract：:The breast cancer susceptibility gene BRCA2 encodes a protein of 3418 amino acids which does not exhibit substantial sequence similarity to any other protein in the public databases. A dot matrix comparison of BRCA2 with itself revealed an eight times repeated motif in the segment of the protein encoded by exon 11. As...

journal_title：Human molecular genetics

authors： Bignell G,Micklem G,Stratton MR,Ashworth A,Wooster R

更新日期：1997-01-01 00:00:00

abstract：:The clearest example of genomic imprinting in humans comes from studies of the Angelman (AS) and Prader-Willi (PWS) syndromes. Although these are clinically distinct disorders, both typically result from a loss of the same chromosomal region, 15q11-q13. AS usually results from either a maternal deletion of this region...

journal_title：Human molecular genetics

authors： Glenn CC,Nicholls RD,Robinson WP,Saitoh S,Niikawa N,Schinzel A,Horsthemke B,Driscoll DJ

更新日期：1993-09-01 00:00:00

abstract：:Spinal and bulbar muscular atrophy (SBMA, also known as Kennedy's disease) is one of nine neurodegenerative disorders that are caused by expansion of polyglutamine-encoding CAG repeats. Intracellular accumulation of abnormal proteins in these diseases, a pathological hallmark, is associated with defects in protein hom...

journal_title：Human molecular genetics

authors： Bott LC,Badders NM,Chen KL,Harmison GG,Bautista E,Shih CC,Katsuno M,Sobue G,Taylor JP,Dantuma NP,Fischbeck KH,Rinaldi C

更新日期：2016-05-15 00:00:00

abstract：:The role of BRCA1 in breast and ovarian tumor suppression has been primarily ascribed to the maintenance of genome integrity. BRCA1 interacts with components of the non-homologous end-joining pathway previously shown to play a role in telomere maintenance in yeast. Here, we provide evidence that links Brca1 with telom...

journal_title：Human molecular genetics

authors： McPherson JP,Hande MP,Poonepalli A,Lemmers B,Zablocki E,Migon E,Shehabeldin A,Porras A,Karaskova J,Vukovic B,Squire J,Hakem R

更新日期：2006-03-15 00:00:00

abstract：:Glucocorticoids are beneficial in Duchenne muscular dystrophy (DMD). Osteopontin (OPN), the protein product of SPP1, plays a role in DMD pathology modulating muscle inflammation and regeneration. A polymorphism in the SPP1 promoter (rs28357094) has been recognized as a genetic modifier of DMD, and there is evidence su...

journal_title：Human molecular genetics

authors： Vianello S,Pantic B,Fusto A,Bello L,Galletta E,Borgia D,Gavassini BF,Semplicini C,Sorarù G,Vitiello L,Pegoraro E

更新日期：2017-09-01 00:00:00

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：:Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is the most severe form of human lipodystrophy and is caused by loss-of-function mutations in the BSCL2/seipin gene. Exactly how seipin may regulate adipogenesis remains unclear. A recent study in vitro suggested that seipin may function to inhibit the activity...

journal_title：Human molecular genetics

authors： Gao M,Liu L,Wang X,Mak HY,Liu G,Yang H

更新日期：2020-02-01 00:00:00

abstract：:Brugada syndrome (BrS) is an inherited cardiac arrhythmic disorder that can lead to sudden death, with a prevalence of 1:5000 in Caucasian population and affecting mainly male patients in their third to fourth decade of life. BrS is inherited as an autosomal dominant trait; however, to date genetic bases have been onl...

journal_title：Human molecular genetics

authors： Di Resta C,Pietrelli A,Sala S,Della Bella P,De Bellis G,Ferrari M,Bordoni R,Benedetti S

更新日期：2015-10-15 00:00:00

abstract：:We have studied 21 families with Wilson disease (WND), using restriction fragment length polymorphisms (RFLPs) in the 13q14.3 region, to measure linkage of these markers to the disease locus. In addition to previously described markers, we include linkage data for a newly isolated marker (D13S86) and an established ma...

journal_title：Human molecular genetics

authors： Thomas GR,Roberts EA,Rosales TO,Moroz SP,Lambert MA,Wong LT,Cox DW

更新日期：1993-09-01 00:00:00

abstract：:Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder, characterised by the association of branchial, otic and renal anomalies with variable degrees of severity. We have recently identified EYA1 , a human homologue of the Drosophila eyes absent gene, as the gene underlying this syndrome. The products of ...

journal_title：Human molecular genetics

authors： Abdelhak S,Kalatzis V,Heilig R,Compain S,Samson D,Vincent C,Levi-Acobas F,Cruaud C,Le Merrer M,Mathieu M,König R,Vigneron J,Weissenbach J,Petit C,Weil D

更新日期：1997-12-01 00:00:00