Cell cycle arrest enhances the in vitro cellular toxicity of the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretch.

abstract：:Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcifications and elevated serum phosphate levels. Recently, mutations in the GALNT3 gene have been described to cause FTC. The FTC phenotype is regarded as the metabolic mirror image of hypophosphatemic conditions, where ca...

journal_title：Human molecular genetics

authors： Benet-Pagès A,Orlik P,Strom TM,Lorenz-Depiereux B

更新日期：2005-02-01 00:00:00

abstract：:The APOE epsilon4 allele is a strong genetic susceptibility factor for Alzheimer's disease. Interaction with other biological factors may modulate the effect of the apoE isoforms. However, previous work suggested that other genetic variability within the APOE locus, influencing the effect of the epsilon4 allele, may e...

journal_title：Human molecular genetics

authors： Lambert JC,Pérez-Tur J,Dupire MJ,Galasko D,Mann D,Amouyel P,Hardy J,Delacourte A,Chartier-Harlin MC

更新日期：1997-11-01 00:00:00

abstract：:The purpose of this study was to determine whether thrombospondin (TSP)-1 promotes macrophage activity and disease progression in dysferlinopathy. First, we found that levels of TSP-1 are elevated in blood of non-ambulant dysferlinopathy patients compared with ambulant patients and healthy controls, supporting the ide...

journal_title：Human molecular genetics

authors： Urao N,Mirza RE,Corbiere TF,Hollander Z,Borchers CH,Koh TJ

更新日期：2017-12-15 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：:Collagen prolyl 4-hydroxylases (C-P4Hs) play a central role in the formation and stabilization of the triple helical domain of collagens. P4HA1 encodes the catalytic α(I) subunit of the main C-P4H isoenzyme (C-P4H-I). We now report human bi-allelic P4HA1 mutations in a family with a congenital-onset disorder of connec...

journal_title：Human molecular genetics

authors： Zou Y,Donkervoort S,Salo AM,Foley AR,Barnes AM,Hu Y,Makareeva E,Leach ME,Mohassel P,Dastgir J,Deardorff MA,Cohn RD,DiNonno WO,Malfait F,Lek M,Leikin S,Marini JC,Myllyharju J,Bönnemann CG

更新日期：2017-06-15 00:00:00

abstract：:IGF2 loss of imprinting (LOI) is fairly prevalent and implicated in the pathogenesis of human cancer and developmental disease; however, the causes of this phenomenon are largely unknown. We determined whether the post-weaning diet of mice affects allelic expression and CpG methylation of Igf2. C57BL/6JxCast/EiJ F1 hy...

journal_title：Human molecular genetics

authors： Waterland RA,Lin JR,Smith CA,Jirtle RL

更新日期：2006-03-01 00:00:00

abstract：:Presenilins 1 and 2 (PS1/2), causative molecules for familial Alzheimer's disease (FAD), are multipass transmembrane proteins localized predominantly in the endoplasmic reticulum (ER) and Golgi apparatus. Heteromeric protein complexes containing PS1/2 are thought to participate in several functions, including intramem...

journal_title：Human molecular genetics

authors： Wang HQ,Nakaya Y,Du Z,Yamane T,Shirane M,Kudo T,Takeda M,Takebayashi K,Noda Y,Nakayama KI,Nishimura M

更新日期：2005-07-01 00:00:00

abstract：:The X-linked retinitis pigmentosa protein RP2 is a GTPase activating protein (GAP) for the small GTPase Arl3 and both proteins are implicated in the traffic of proteins to the primary cilia. Here, we show that RP2 can facilitate the traffic of the Gβ subunit of transducin (Gβ1). Glutathione S-transferase (GST)-RP2 pul...

journal_title：Human molecular genetics

authors： Schwarz N,Novoselova TV,Wait R,Hardcastle AJ,Cheetham ME

更新日期：2012-02-15 00:00:00

abstract：:Smooth muscle cell (SMC) proliferation is a hallmark of vascular injury and disease. Global hypomethylation occurs during SMC proliferation in culture and in vivo during neointimal formation. Regardless of the programmed or stochastic nature of hypomethylation, identifying these changes is important in understanding v...

journal_title：Human molecular genetics

authors： Connelly JJ,Cherepanova OA,Doss JF,Karaoli T,Lillard TS,Markunas CA,Nelson S,Wang T,Ellis PD,Langford CF,Haynes C,Seo DM,Goldschmidt-Clermont PJ,Shah SH,Kraus WE,Hauser ER,Gregory SG

更新日期：2013-12-20 00:00:00

abstract：:Advances in information technology (IT) hardware in the last decade have led to the advent of small connected devices broadly referred to as the Internet of Things (IoT). The IoT and its subcategory of wearable devices (wearables) both have the potential to greatly impact biomedical research. This focused review cover...

journal_title：Human molecular genetics

authors： Talboom JS,Huentelman MJ

更新日期：2018-05-01 00:00:00

abstract：:Serum total immunoglobulin E (IgE) is a critical intermediate phenotype of allergic diseases. Although total IgE exhibits sexual dimorphism in humans (with males demonstrating higher IgE than females), the molecular basis of this difference is unknown. A genome-wide scan of 380 short-tandem repeat (STR) markers was pe...

journal_title：Human molecular genetics

authors： Raby BA,Soto-Quiros ME,Avila L,Lake SL,Murphy A,Liang C,Fournier E,Spesny M,Sylvia JS,Verner A,Hudson TJ,Klanderman BJ,Freimer NB,Silverman EK,Celedón JC

更新日期：2007-02-01 00:00:00

abstract：:ATRX is a chromatin remodeling protein involved in deposition of the histone variant H3.3 at telomeres and pericentromeric heterochromatin. It also influences the expression level of specific genes; however, deposition of H3.3 at transcribed genes is currently thought to occur independently of ATRX. We focused on a se...

journal_title：Human molecular genetics

authors： Levy MA,Kernohan KD,Jiang Y,Bérubé NG

更新日期：2015-04-01 00:00:00

abstract：:Although studies over the last decades have firmly connected a number of genes and molecular pathways to aging, the aging process as a whole still remains poorly understood. To gain novel insights into the mechanisms underlying aging, instead of considering aging genes individually, we studied their characteristics at...

journal_title：Human molecular genetics

authors： Zhang Q,Nogales-Cadenas R,Lin JR,Zhang W,Cai Y,Vijg J,Zhang ZD

更新日期：2016-07-15 00:00:00

abstract：:We have constructed a long-range restriction map of the region on chromosome 4q that contains the gene for facioscapulohumeral muscular dystrophy (FSHD). This region contains the linkage group cen ... D4S163-D4S139-D4F35S1-D4F104S1-FSHD ... 4qter, which spans a genetic distance of about 5 cM. Pulse field gel electroph...

journal_title：Human molecular genetics

authors： Wijmenga C,Wright TJ,Baan MJ,Padberg GW,Williamson R,van Ommen GJ,Hewitt JE,Hofker MH,Frants RR

更新日期：1993-10-01 00:00:00

abstract：:Mutations in the DFNB31 gene encoding the PDZ scaffold protein whirlin are causative for hearing loss in man and mouse. Whirlin is known to be essential for the elongation process of the stereocilia of sensory hair cells in the inner ear, though its complete spatial and temporal expression patterns remained elusive. H...

journal_title：Human molecular genetics

authors： van Wijk E,van der Zwaag B,Peters T,Zimmermann U,Te Brinke H,Kersten FF,Märker T,Aller E,Hoefsloot LH,Cremers CW,Cremers FP,Wolfrum U,Knipper M,Roepman R,Kremer H

更新日期：2006-03-01 00:00:00

abstract：:The gene which is defective in Duchenne muscular dystrophy (DMD) is the largest known gene. The product of the gene in muscle, dystrophin, is a 427 kDa protein. The same gene encodes at least six additional products: two non-muscle dystrophin isoforms transcribed from promoters located in the 5'-end region of the gene...

journal_title：Human molecular genetics

authors： Wang J,Pansky A,Venuti JM,Yaffe D,Nudel U

更新日期：1998-04-01 00:00:00

abstract：:Titin-truncating variants (TTNtv) are the most common genetic cause of dilated cardiomyopathy. TTNtv occur in ~1% of the general population and causes subclinical cardiac remodeling in asymptomatic carriers. In rat models with either proximal or distal TTNtv, we previously showed altered cardiac metabolism at baseline...

journal_title：Human molecular genetics

authors： Zhou J,Ng B,Ko NSJ,Fiedler LR,Khin E,Lim A,Sahib NE,Wu Y,Chothani SP,Schafer S,Bay BH,Sinha RA,Cook SA,Yen PM

更新日期：2019-06-15 00:00:00

abstract：:PRESENILIN1 (PSEN1) is the major locus for mutations causing familial Alzheimer's disease (FAD) and is also mutated in Pick disease of brain, familial acne inversa and dilated cardiomyopathy. It is a critical facilitator of Notch signalling and many other signalling pathways and protein cleavage events including produ...

journal_title：Human molecular genetics

authors： Newman M,Wilson L,Verdile G,Lim A,Khan I,Moussavi Nik SH,Pursglove S,Chapman G,Martins RN,Lardelli M

更新日期：2014-02-01 00:00:00

abstract：:Despite extensive progress in Huntington's disease (HD) research, very little is known about the association of epigenetic variation and HD pathogenesis in human brain tissues. Moreover, its contribution to the tissue-specific transcriptional regulation of the huntingtin gene (HTT), in which HTT expression levels are ...

journal_title：Human molecular genetics

authors： De Souza RA,Islam SA,McEwen LM,Mathelier A,Hill A,Mah SM,Wasserman WW,Kobor MS,Leavitt BR

更新日期：2016-05-15 00:00:00

abstract：:Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene coding for α-galactosidase A (α-GalA). The deleterious mutations lead to accumulation of α-GalA substrates, including globotriaosylceramide (Gb3) and globotriaosylsphingosine. Progressive glycolipid storage results in cellular ...

journal_title：Human molecular genetics

authors： Welford RWD,Mühlemann A,Garzotti M,Rickert V,Groenen PMA,Morand O,Üçeyler N,Probst MR

更新日期：2018-10-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with multisystem involvement. So far, 18 BBS genes have been identified and the majority of them are essential for the function of BBSome, a protein complex involved in transporting membrane proteins into and from cilia. Yet defects in the identified gen...

journal_title：Human molecular genetics

authors： Aldahmesh MA,Li Y,Alhashem A,Anazi S,Alkuraya H,Hashem M,Awaji AA,Sogaty S,Alkharashi A,Alzahrani S,Al Hazzaa SA,Xiong Y,Kong S,Sun Z,Alkuraya FS

更新日期：2014-06-15 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：:Prion diseases encompass a diverse group of neurodegenerative conditions characterized by the accumulation of misfolded prion protein (PrP) isoforms. Other conformational variants of PrP have also been proposed to contribute to neurotoxicity in prion diseases, including misfolded intermediates as well as cytosolic and...

journal_title：Human molecular genetics

authors： Sanchez-Garcia J,Arbelaez D,Jensen K,Rincon-Limas DE,Fernandez-Funez P

更新日期：2013-11-01 00:00:00

abstract：:DiGeorge syndrome, and more widely the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. A critical region of 500 kb has been delimited within which maps the breakpoint of a balanced translocation associated with mild CATCH 22 phenotypes. We report the isolation from this critical re...

journal_title：Human molecular genetics

authors： Demczuk S,Thomas G,Aurias A

更新日期：1996-05-01 00:00:00

abstract：:Gene silencing through aberrant CpG island methylation is a frequent epigenetic defect in hepatocellular carcinoma (HCC). However, nothing is known as yet whether aberrant hypermethylation occurs already in non-neoplastic liver cells from patients with hereditary haemochromatosis who have a clearly elevated risk for d...

journal_title：Human molecular genetics

authors： Lehmann U,Wingen LU,Brakensiek K,Wedemeyer H,Becker T,Heim A,Metzig K,Hasemeier B,Kreipe H,Flemming P

更新日期：2007-06-01 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：:CHD7 mutations are implicated in a majority of cases of the congenital disorder, CHARGE syndrome. CHARGE, an autosomal dominant syndrome, is known to affect multiple tissues including eye, heart, ear, craniofacial nerves and skeleton and genital organs. Using a morpholino-antisense-oligonucleotide-based zebrafish mode...

journal_title：Human molecular genetics

authors： Asad Z,Pandey A,Babu A,Sun Y,Shevade K,Kapoor S,Ullah I,Ranjan S,Scaria V,Bajpai R,Sachidanandan C

更新日期：2016-08-15 00:00:00

abstract：:Deficiency of the dysferlin protein presents as two major clinical phenotypes: limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Dysferlin is known to participate in membrane repair, providing a potential hypothesis to the underlying pathophysiology of these diseases. The size of the dysferlin cDNA prevents...

journal_title：Human molecular genetics

authors： Lostal W,Bartoli M,Bourg N,Roudaut C,Bentaïb A,Miyake K,Guerchet N,Fougerousse F,McNeil P,Richard I

更新日期：2010-05-15 00:00:00

abstract：:Biliary atresia (BA) is characterized by the progressive fibrosclerosing obliteration of the extrahepatic biliary system during the first few weeks of life. Despite early diagnosis and prompt surgical intervention, the disease progresses to cirrhosis in many patients. The current theory for the pathogenesis of BA prop...

journal_title：Human molecular genetics

authors： Garcia-Barceló MM,Yeung MY,Miao XP,Tang CS,Cheng G,So MT,Ngan ES,Lui VC,Chen Y,Liu XL,Hui KJ,Li L,Guo WH,Sun XB,Tou JF,Chan KW,Wu XZ,Song YQ,Chan D,Cheung K,Chung PH,Wong KK,Sham PC,Cherny SS,Tam PK

更新日期：2010-07-15 00:00:00

abstract：:Osteoarthritis is a common, complex disease with no curative therapy. In this review, we summarize current knowledge on disease aetiopathogenesis and outline genetics and genomics approaches that are helping catalyse a much-needed improved understanding of the biological underpinning of disease development and progres...

journal_title：Human molecular genetics

authors： Cibrián Uhalte E,Wilkinson JM,Southam L,Zeggini E

更新日期：2017-10-01 00:00:00