A CTCF-binding silencer regulates the imprinted genes AWT1 and WT1-AS and exhibits sequential epigenetic defects during Wilms' tumourigenesis.

abstract：:Parkinson's disease (PD) is characterized by selective degeneration of dopaminergic neurons. Although the etiology of PD remains incompletely understood, oxidative stress has been implicated as an important contributor in the development of PD. Oxidative stress can lead to oxidation and functional perturbation of prot...

journal_title：Human molecular genetics

authors： Johnson WM,Yao C,Siedlak SL,Wang W,Zhu X,Caldwell GA,Wilson-Delfosse AL,Mieyal JJ,Chen SG

更新日期：2015-03-01 00:00:00

abstract：:CREB-binding protein (CBP, CREBBP, KAT3A) and its closely related paralogue p300 (EP300, KAT3B), together termed p300/CBP, are histone/lysine acetyl-transferases that control gene expression by modifying chromatin-associated proteins. Here, we report roles for both of these chromatin-modifying enzymes in mouse sex det...

journal_title：Human molecular genetics

authors： Carré GA,Siggers P,Xipolita M,Brindle P,Lutz B,Wells S,Greenfield A

更新日期：2018-01-01 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：:Chromosomal common fragile sites (CFSs) are genetically unstable regions of the genome that are induced by conditions that impair DNA replication. In this report, we show that treatment with the DNA polymerase inhibitor, aphidicolin (APH), slows the replication rate throughout S phase. To investigate the unusual sensi...

journal_title：Human molecular genetics

authors： Palakodeti A,Lucas I,Jiang Y,Young DJ,Fernald AA,Karrison T,Le Beau MM

更新日期：2010-01-01 00:00:00

abstract：:Polyglutamine expansion in certain proteins causes neurodegeneration in inherited disorders such as Huntington disease and X-linked spinobulbar muscular atrophy. Polyglutamine tracts promote protein aggregation in vitro and in vivo with a strict length-dependence that strongly implicates alternative protein folding an...

journal_title：Human molecular genetics

authors： Desai UA,Pallos J,Ma AA,Stockwell BR,Thompson LM,Marsh JL,Diamond MI

更新日期：2006-07-01 00:00:00

abstract：:Huntington disease (HD) is an autosomal dominant neurodegenerative disease caused by an expanded CAG trinucleotide repeat in the first exon of the HD gene, which results in a toxic polyglutamine stretch within huntingtin, the protein it encodes. Understanding the normal function of this essential protein is vital to u...

journal_title：Human molecular genetics

authors： Strehlow AN,Li JZ,Myers RM

更新日期：2007-02-15 00:00:00

abstract：:Recent prospective analysis identified secretory phospholipase A(2)-IIa (sPLA(2)IIa) as a coronary artery disease (CAD) risk predictor. This study aimed to examine the relationship between serum levels of sPLA(2)IIa and variation in the sPLA(2)IIa gene (PLA2G2A) in a cohort of patients with Type II diabetes (T2D) mell...

journal_title：Human molecular genetics

authors： Wootton PT,Drenos F,Cooper JA,Thompson SR,Stephens JW,Hurt-Camejo E,Wiklund O,Humphries SE,Talmud PJ

更新日期：2006-01-15 00:00:00

abstract：:The fragile X syndrome is characterized at the molecular level by expansion and methylation of a CGG trinucleotide repeat located within the FMR1 locus. The tissues of most full mutation carriers are mosaic for repeat size, but these mutational patterns tend to be well conserved when comparing multiple tissues within ...

journal_title：Human molecular genetics

authors： Burman RW,Popovich BW,Jacky PB,Turker MS

更新日期：1999-11-01 00:00:00

abstract：:FOXP transcription factors play important roles in neurodevelopment, but little is known about how their transcriptional activity is regulated. FOXP proteins cooperatively regulate gene expression by forming homo- and hetero-dimers with each other. Physical associations with other transcription factors might also modu...

journal_title：Human molecular genetics

authors： Estruch SB,Graham SA,Quevedo M,Vino A,Dekkers DHW,Deriziotis P,Sollis E,Demmers J,Poot RA,Fisher SE

更新日期：2018-04-01 00:00:00

abstract：:Family history of endometrial cancer increases the risk of developing the disease, but it is still largely unknown which germ-line genetic factors are involved in the aetiology of endometrial cancer. In a Swedish population-based case-control study including 705 cases and 1565 controls, we examined common variation in...

journal_title：Human molecular genetics

authors： Einarsdóttir K,Humphreys K,Bonnard C,Li Y,Li Y,Chia KS,Liu ET,Hall P,Liu J,Wedrén S

更新日期：2007-01-15 00:00:00

abstract：:Genetic studies have implicated the neuronal ubiquitin C-terminal hydrolase (UCH) protein UCH-L1 in Parkinson's disease (PD) pathogenesis. Moreover, the function of UCH-L1 may be lost in the brains of PD and Alzheimer's disease patients. We have previously reported that the UCH-L1 polymorphic variant S18Y, potentially...

journal_title：Human molecular genetics

authors： Xilouri M,Kyratzi E,Pitychoutis PM,Papadopoulou-Daifoti Z,Perier C,Vila M,Maniati M,Ulusoy A,Kirik D,Park DS,Wada K,Stefanis L

更新日期：2012-02-15 00:00:00

abstract：:The Menkes disease gene encodes a P-type transmembrane ATPase (ATP7A) that translocates cytosolic copper ions across intracellular membranes of compartments along the secretory pathway. ATP7A moves from the trans-Golgi network (TGN) to the cell surface in response to exogenously added copper ions and recycles back to ...

journal_title：Human molecular genetics

authors： Cobbold C,Coventry J,Ponnambalam S,Monaco AP

更新日期：2003-07-01 00:00:00

abstract：:Elevated blood pressure is an important risk factor for renal-, cerebro- and cardiovascular diseases. We used an efficient discordant sib-pair ascertainment scheme to investigate the impact of the distal end of the long arm of human chromosome 5 (chromosomal region 5q31.1-qter) containing genes for the alpha1B and bet...

journal_title：Human molecular genetics

authors： Krushkal J,Xiong M,Ferrell R,Sing CF,Turner ST,Boerwinkle E

更新日期：1998-09-01 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：:The genetic defect underlying myotonic dystrophy (DM) has been identified as the expansion of an unstable trinucleotide repeat sequence, and this discovery has led to new approaches to diagnosis and genetic counselling in families with the disorder. We report the genetic analysis of a consanguineous DM family in which...

journal_title：Human molecular genetics

authors： Cobo A,Martinez JM,Martorell L,Baiget M,Johnson K

更新日期：1993-06-01 00:00:00

abstract：:The fragile X syndrome results from transcriptional silencing of the FMR1 gene and the absence of its encoded FMRP protein. Two autosomal homologues of the FMR1 gene, FXR1 and FXR2, have been identified and the overall structures of the corresponding proteins are very similar to that of FMRP. Using antibodies raised a...

journal_title：Human molecular genetics

authors： Khandjian EW,Bardoni B,Corbin F,Sittler A,Giroux S,Heitz D,Tremblay S,Pinset C,Montarras D,Rousseau F,Mandel J

更新日期：1998-12-01 00:00:00

abstract：:Missense mutations and extra copies of the alpha-Synuclein gene result in Parkinson disease (PD). Human stem and progenitor cells can be expanded from embryonic tissues and provide a source of non-transformed neural cells to explore the effects of these pathogenic mutations specifically in human nervous tissue. We ove...

journal_title：Human molecular genetics

authors： Schneider BL,Seehus CR,Capowski EE,Aebischer P,Zhang SC,Svendsen CN

更新日期：2007-03-15 00:00:00

abstract：:Psoriasis is an immune-mediated skin disorder that is inherited as a multifactorial trait. Linkage studies have clearly identified a primary disease susceptibility locus lying within the major histocompatibility complex (MHC), but have generated conflicting results for other genomic regions. To overcome this difficult...

journal_title：Human molecular genetics

authors： Capon F,Bijlmakers MJ,Wolf N,Quaranta M,Huffmeier U,Allen M,Timms K,Abkevich V,Gutin A,Smith R,Warren RB,Young HS,Worthington J,Burden AD,Griffiths CE,Hayday A,Nestle FO,Reis A,Lanchbury J,Barker JN,Trembath RC

更新日期：2008-07-01 00:00:00

abstract：:Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disease caused by the expansion of a polyglutamine tract within the SCA1 product, ataxin-1. Previously, using transgenic mice, it was demonstrated that in order for a mutant allele of ataxin-1 to cause disease it must be transported to the...

journal_title：Human molecular genetics

authors： Yue S,Serra HG,Zoghbi HY,Orr HT

更新日期：2001-01-01 00:00:00

abstract：:Neurofibromas are one of the most characteristic features of neurofibromatosis type 1 (NF1), an inherited autosomal-dominant neurogenetic disorder affecting 1 in 3500 individuals worldwide. These benign tumors mainly consist of Schwann cells (SCs) and fibroblasts. Recent evidence demonstrates that somatic mutations at...

journal_title：Human molecular genetics

authors： Serra E,Rosenbaum T,Winner U,Aledo R,Ars E,Estivill X,Lenard HG,Lázaro C

更新日期：2000-12-12 00:00:00

abstract：:A wide spectrum of birth defects are caused by deletions of the DiGeorge syndrome critical region (DGCR) at human chromosome 22q11. Over one hundred such deletions have now been examined and a minimally deleted region of 300kb defined. Within these sequences we have identified a gene expressed during human and murine ...

journal_title：Human molecular genetics

authors： Halford S,Wadey R,Roberts C,Daw SC,Whiting JA,O'Donnell H,Dunham I,Bentley D,Lindsay E,Baldini A

更新日期：1993-12-01 00:00:00

abstract：:Mutations in human mitochondrial tRNA genes are associated with a number of multisystemic disorders. Using an assay that combines tRNA oxidation and circularization we have determined the relative amounts and states of aminoacylation of mutant and wild-type tRNAs in tissue samples from patients with MELAS syndrome (mi...

journal_title：Human molecular genetics

authors： Börner GV,Zeviani M,Tiranti V,Carrara F,Hoffmann S,Gerbitz KD,Lochmüller H,Pongratz D,Klopstock T,Melberg A,Holme E,Pääbo S

更新日期：2000-03-01 00:00:00

abstract：:The zinc metalloprotease ZMPSTE24 plays a critical role in nuclear lamin biology by cleaving the prenylated and carboxylmethylated 15-amino acid tail from the C-terminus of prelamin A to yield mature lamin A. A defect in this proteolytic event, caused by a mutation in the lamin A gene (LMNA) that eliminates the ZMPSTE...

journal_title：Human molecular genetics

authors： Barrowman J,Wiley PA,Hudon-Miller SE,Hrycyna CA,Michaelis S

更新日期：2012-09-15 00:00:00

abstract：:Wolfram syndrome (WS) is a heterogeneous multisystem neurodegenerative disorder with two allelic variations in addition to a separate subtype known as WS type 2. The wide phenotypic spectrum of WS includes diabetes mellitus and optic atrophy which is often accompanied by diabetes insipidus, deafness, urological and ne...

journal_title：Human molecular genetics

authors： Riachi M,Yilmaz S,Kurnaz E,Aycan Z,Çetinkaya S,Tranebjærg L,Rendtorff ND,Bitner-Glindzicz M,Bockenhauer D,Hussain K

更新日期：2019-11-15 00:00:00

abstract：:Prolactinomas are the most frequent type of pituitary tumors, which represent 10-20% of all intracranial neoplasms in humans. Prolactinomas develop in mice lacking the prolactin receptor (PRLR), which is a member of the cytokine receptor superfamily that signals via Janus kinase-2-signal transducer and activator of tr...

journal_title：Human molecular genetics

authors： Gorvin CM,Newey PJ,Rogers A,Stokes V,Neville MJ,Lines KE,Ntali G,Lees P,Morrison PJ,Singhellakis PN,Malandrinou FC,Karavitaki N,Grossman AB,Karpe F,Thakker RV

更新日期：2019-03-15 00:00:00

abstract：:Insulin-like growth factor II (IGF-II) is a mitogen for many cell types and an important modulator of muscle growth and differentiation. IGF-II gene is prevalently expressed during prenatal development and its gene activity is regulated by genomic imprinting, in that the allele inherited from the father is active and ...

journal_title：Human molecular genetics

authors： Pedone PV,Tirabosco R,Cavazzana AO,Ungaro P,Basso G,Luksch R,Carli M,Bruni CB,Frunzio R,Riccio A

更新日期：1994-07-01 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：:X-linked myotubular myopathy (MTM) is a severe neuromuscular disease of infancy caused by mutations of MTM1, which encodes the phosphoinositide lipid phosphatase, myotubularin. The Mtm1 knockout (KO) mouse has a severe phenotype and its short lifespan (8 weeks) makes it a challenge to use as a model in the testing of ...

journal_title：Human molecular genetics

authors： Pierson CR,Dulin-Smith AN,Durban AN,Marshall ML,Marshall JT,Snyder AD,Naiyer N,Gladman JT,Chandler DS,Lawlor MW,Buj-Bello A,Dowling JJ,Beggs AH

更新日期：2012-02-15 00:00:00

abstract：:Progressive myoclonus epilepsy of Lafora type (LD, MIM 254780) is a fatal autosomal recessive disorder characterized by the presence of progressive neurological deterioration, myoclonus, epilepsy and polyglucosan intracellular inclusion bodies, called Lafora bodies. Lafora bodies resemble glycogen with reduced branchi...

journal_title：Human molecular genetics

authors： Fernández-Sánchez ME,Criado-García O,Heath KE,García-Fojeda B,Medraño-Fernández I,Gomez-Garre P,Sanz P,Serratosa JM,Rodríguez de Córdoba S

更新日期：2003-12-01 00:00:00

abstract：:We, amongst others, have shown that CC homozygosity at the -22C>T promoter polymorphism in presenilin 1 (PSEN1) is associated with increased risk for Alzheimer's disease (AD). Also, studies in AD brains suggested that CC homozygosity increased the risk for AD by increasing the Abeta load. We characterized the PSEN1 pr...

journal_title：Human molecular genetics

authors： Theuns J,Remacle J,Killick R,Corsmit E,Vennekens K,Huylebroeck D,Cruts M,Van Broeckhoven C

更新日期：2003-04-15 00:00:00