Low-pass whole genome bisulfite sequencing of neonatal dried blood spots identifies a role for RUNX1 in Down syndrome DNA methylation profiles.

abstract：:Huntington's disease is caused by an expanded polyglutamine tract in huntingtin protein, leading to accumulation of huntingtin in the nuclei of striatal neurons. The 18 amino-acid amino-terminus of huntingtin is an amphipathic alpha helical membrane-binding domain that can reversibly target to vesicles and the endopla...

journal_title：Human molecular genetics

authors： Atwal RS,Xia J,Pinchev D,Taylor J,Epand RM,Truant R

更新日期：2007-11-01 00:00:00

abstract：:To investigate the putative role of BRCA1, a gene involved in hereditary breast and ovarian cancer, in sporadic ovarian tumors among Japanese women, we examined 76 unselected primary ovarian cancers for mutations in the coding region of BRCA1 using the single-strand conformation polymorphism technique. Although no som...

journal_title：Human molecular genetics

authors： Matsushima M,Kobayashi K,Emi M,Saito H,Saito J,Suzumori K,Nakamura Y

更新日期：1995-10-01 00:00:00

abstract：:Mitochondria contain a dedicated translation system, which is responsible for the intramitochondrial synthesis of 13 mitochondrial DNA (mtDNA)-encoded polypeptides essential for the biogenesis of oxidative phosphorylation (OXPHOS) complexes I and III-V. Mutations in nuclear genes encoding factors involved in mitochond...

journal_title：Human molecular genetics

authors： Pulman J,Ruzzenente B,Bianchi L,Rio M,Boddaert N,Munnich A,Rötig A,Metodiev MD

更新日期：2019-05-01 00:00:00

abstract：:Adult body height is a quantitative trait for which genome-wide association studies (GWAS) have identified numerous loci, primarily in European populations. These loci, comprising common variants, explain <10% of the phenotypic variance in height. We searched for novel associations between height and common (minor all...

journal_title：Human molecular genetics

authors： Du M,Auer PL,Jiao S,Haessler J,Altshuler D,Boerwinkle E,Carlson CS,Carty CL,Chen YD,Curtis K,Franceschini N,Hsu L,Jackson R,Lange LA,Lettre G,Monda KL,National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing

更新日期：2014-12-15 00:00:00

abstract：:The protein ataxin-3 (ATX3) triggers an amyloid-related neurodegenerative disease when its polyglutamine stretch is expanded beyond a critical threshold. We formerly demonstrated that the polyphenol epigallocatechin-3-gallate (EGCG) could redirect amyloid aggregation of a full-length, expanded ATX3 (ATX3-Q55) towards ...

journal_title：Human molecular genetics

authors： Visentin C,Pellistri F,Natalello A,Vertemara J,Bonanomi M,Gatta E,Penco A,Relini A,De Gioia L,Airoldi C,Regonesi ME,Tortora P

更新日期：2017-09-01 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) is a lethal, muscle degenerative disease causing premature death of affected children. DMD is characterized by mutations in the dystrophin gene that result in a loss of the dystrophin protein. Loss of dystrophin causes an associated reduction in proteins of the dystrophin glycoprotein...

journal_title：Human molecular genetics

authors： Fontelonga TM,Jordan B,Nunes AM,Barraza-Flores P,Bolden N,Wuebbles RD,Griner LM,Hu X,Ferrer M,Marugan J,Southall N,Burkin DJ

更新日期：2019-07-01 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：:Over the past decades the search for disease causing variants has been focusing exclusively on the coding genome. This highly selective approach has been extremely successful resulting in the identification of thousands of disease genes, but ignores the functional and therefore disease relevance of the rest of the gen...

journal_title：Human molecular genetics

authors： Spielmann M,Mundlos S

更新日期：2016-10-01 00:00:00

abstract：:Expansion of a polyglutamine tract in ataxin-3 (AT3) results in spinocerebellar ataxia type 3/Machado-Joseph disease, one of the nine polyglutamine neurodegenerative diseases. Understanding the normal functions of AT3 as well as its function in the context of expansion of the polyglutamine tract is critical for unders...

journal_title：Human molecular genetics

authors： Zhong X,Pittman RN

更新日期：2006-08-15 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：:Age-related macular degeneration (AMD) is a progressive disease of the central retina and the leading cause of irreversible vision loss in the western world. The involvement of abnormal complement activation in AMD has been suggested by association of variants in genes encoding complement proteins with disease develop...

journal_title：Human molecular genetics

authors： Kremlitzka M,Geerlings MJ,de Jong S,Bakker B,Nilsson SC,Fauser S,Hoyng CB,de Jong EK,den Hollander AI,Blom AM

更新日期：2018-08-01 00:00:00

abstract：:Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G-->A nucleotide change. The mutation results in substitution of a glutamic acid for a g...

journal_title：Human molecular genetics

authors： Renieri A,Seri M,Myers JC,Pihlajaniemi T,Massella L,Rizzoni G,De Marchi M

更新日期：1992-05-01 00:00:00

abstract：:During postnatal development, neuronal activity controls the remodeling of initially imprecise neuronal connections through the regulation of gene expression. MeCP2 binds to methylated DNA and modulates gene expression during neuronal development and MECP2 mutation causes the autistic disorder Rett syndrome. To invest...

journal_title：Human molecular genetics

authors： Lee W,Yun JM,Woods R,Dunaway K,Yasui DH,Lasalle JM,Gong Q

更新日期：2014-12-01 00:00:00

abstract：:The rate-limiting step of dietary calcium absorption in the intestine requires the brush border calcium entry channel TRPV6. The TRPV6 gene was completely sequenced in 170 renal calcium stone patients. The frequency of an ancestral TRPV6 haplotype consisting of three non-synonymous polymorphisms (C157R, M378V, M681T) ...

journal_title：Human molecular genetics

authors： Suzuki Y,Pasch A,Bonny O,Mohaupt MG,Hediger MA,Frey FJ

更新日期：2008-06-01 00:00:00

abstract：:We describe and functionally characterize six mutations of the acetylcholine receptor (AChR) epsilon subunit gene in three congenital myasthenic syndrome patients. Endplate studies demonstrated severe endplate AChR deficiency, dispersed endplate regions and well preserved junctional folds in all three patients. Electr...

journal_title：Human molecular genetics

authors： Ohno K,Quiram PA,Milone M,Wang HL,Harper MC,Pruitt JN 2nd,Brengman JM,Pao L,Fischbeck KH,Crawford TO,Sine SM,Engel AG

更新日期：1997-05-01 00:00:00

abstract：:Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A gene at Xq22.1. To determine the nature and frequency of the molecular lesions causing the classical and milder variant Fabry phenotypes, and for precise carrier detection in Fabry families, the...

journal_title：Human molecular genetics

authors： Eng CM,Niehaus DJ,Enriquez AL,Burgert TS,Ludman MD,Desnick RJ

更新日期：1994-10-01 00:00:00

abstract：:Non-syndromic neurosensory autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Previous studies defined at least 15 human NSRD loci. Recently we demonstrated that DFNB1, located on the long arm of chromosome 13, accounts for approximately 80% of cases in the Mediterranean area. Further...

journal_title：Human molecular genetics

authors： Zelante L,Gasparini P,Estivill X,Melchionda S,D'Agruma L,Govea N,Milá M,Monica MD,Lutfi J,Shohat M,Mansfield E,Delgrosso K,Rappaport E,Surrey S,Fortina P

更新日期：1997-09-01 00:00:00

abstract：:Several studies have shown that testis-specific gene antigen (TSGA10) could be considered as a cancer testis antigen (CTA), except for one study which has identified it as a tumor suppressor gene. In order to exert its function, TSGA10 interacts closely with hypoxia inducible factor (HIF-1α) and since this interaction...

journal_title：Human molecular genetics

authors： Mansouri K,Mostafie A,Rezazadeh D,Shahlaei M,Modarressi MH

更新日期：2016-01-15 00:00:00

abstract：:Protein translation is an essential cellular process initiated by the association of a methionyl-tRNA with the translation initiation factor eIF2. The Met-tRNA/eIF2 complex then associates with the small ribosomal subunit, other translation factors and mRNA, which together comprise the translational initiation complex...

journal_title：Human molecular genetics

authors： Kernohan KD,Tétreault M,Liwak-Muir U,Geraghty MT,Qin W,Venkateswaran S,Davila J,Care4Rare Canada Consortium.,Holcik M,Majewski J,Richer J,Boycott KM

更新日期：2015-11-15 00:00:00

abstract：:Mutations in SOX18, VEGFC and Vascular Endothelial Growth Factor 3 underlie the hereditary lymphatic disorders hypotrichosis-lymphedema-telangiectasia (HLT), Milroy-like lymphedema and Milroy disease, respectively. Genes responsible for hereditary lymphedema are key regulators of lymphatic vascular development in the ...

journal_title：Human molecular genetics

authors： Kartopawiro J,Bower NI,Karnezis T,Kazenwadel J,Betterman KL,Lesieur E,Koltowska K,Astin J,Crosier P,Vermeren S,Achen MG,Stacker SA,Smith KA,Harvey NL,François M,Hogan BM

更新日期：2014-03-01 00:00:00

abstract：:Homozygosity for Cst6 null alleles causes the phenotype of the ichq mouse, which is a model for human harlequin ichthyosis (OMIM 242500), a genetically heterogeneous group of keratinization disorders. Here we report evidence for the mechanism by which deficiency of the cysteine protease inhibitor cystatin M/E (the Cst...

journal_title：Human molecular genetics

authors： Zeeuwen PL,van Vlijmen-Willems IM,Olthuis D,Johansen HT,Hitomi K,Hara-Nishimura I,Powers JC,James KE,op den Camp HJ,Lemmens R,Schalkwijk J

更新日期：2004-05-15 00:00:00

abstract：:The molecular defects responsible for three cases of severe (type III) osteogenesis imperfecta (OI) were investigated. The mutation sites were localized in pro alpha 1(I) and pro alpha 2(I) mRNA molecules, respectively, by chemical cleavage of mismatch in heteroduplex nucleic acids. Mutation identification was achieve...

journal_title：Human molecular genetics

authors： Forlino A,Zolezzi F,Valli M,Pignatti PF,Cetta G,Brunelli PC,Mottes M

更新日期：1994-12-01 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：:F1Fo-ATP synthase is a key enzyme of mitochondrial energy provision producing most of cellular ATP. So far, mitochondrial diseases caused by isolated disorders of the ATP synthase have been shown to result from mutations in mtDNA genes for the subunits ATP6 and ATP8 or in nuclear genes encoding the biogenesis factors ...

journal_title：Human molecular genetics

authors： Mayr JA,Havlícková V,Zimmermann F,Magler I,Kaplanová V,Jesina P,Pecinová A,Nusková H,Koch J,Sperl W,Houstek J

更新日期：2010-09-01 00:00:00

abstract：:Renal-coloboma syndrome, also known as papillorenal syndrome, is an autosomal dominant human disorder in which optic disc coloboma is associated with kidney abnormalities. Mutations in the paired domain transcription factor PAX2 have been found to be the underlying cause of this disease. Disease severity varies betwee...

journal_title：Human molecular genetics

authors： Cross SH,McKie L,West K,Coghill EL,Favor J,Bhattacharya S,Brown SD,Jackson IJ

更新日期：2011-01-15 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：:FMR1 protein expression was studied in different tissues. In human, monkey and murine tissues, high molecular mass FMR1 proteins (67-80 kDa) are found, as shown in lymphoblastoid cells lines. The identity of these proteins was confirmed by their absence in tissues from patients with the fragile X syndrome and a FMR1 k...

journal_title：Human molecular genetics

authors： Verheij C,de Graaff E,Bakker CE,Willemsen R,Willems PJ,Meijer N,Galjaard H,Reuser AJ,Oostra BA,Hoogeveen AT

更新日期：1995-05-01 00:00:00

abstract：:Mutations in the gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase (PDE6C) have been recently reported in patients with autosomal recessive inherited achromatopsia (ACHM) and early-onset cone photoreceptor dysfunction. Here we present the results of a comprehensive study on PDE6C mutation...

journal_title：Human molecular genetics

authors： Grau T,Artemyev NO,Rosenberg T,Dollfus H,Haugen OH,Cumhur Sener E,Jurklies B,Andreasson S,Kernstock C,Larsen M,Zrenner E,Wissinger B,Kohl S

更新日期：2011-02-15 00:00:00

abstract：:Methylmalonic aciduria (MMA) cblB type is caused by mutations in the MMAB gene. This encodes the enzyme ATP:cob(I)alamin adenosyltransferase (ATR), which converts reduced cob(I)alamin to an active adenosylcobalamin cofactor. We recently reported the presence of destabilizing pathogenic mutations that retain some resid...

journal_title：Human molecular genetics

authors： Jorge-Finnigan A,Brasil S,Underhaug J,Ruíz-Sala P,Merinero B,Banerjee R,Desviat LR,Ugarte M,Martinez A,Pérez B

更新日期：2013-09-15 00:00:00

abstract：:X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder characterized by axonopathy and demyelination in the central nervous system and adrenal insufficiency. Main X-ALD phenotypes are: (i) an adult adrenomyeloneuropathy (AMN) with axonopathy in spinal cords, (ii) cerebral AMN with brain demyelination (cAMN) an...

journal_title：Human molecular genetics

authors： Schlüter A,Espinosa L,Fourcade S,Galino J,López E,Ilieva E,Morató L,Asheuer M,Cook T,McLaren A,Reid J,Kelly F,Bates S,Aubourg P,Galea E,Pujol A

更新日期：2012-03-01 00:00:00