The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization.

abstract：:Melanomas contain high frequencies of tumorigenic cells and their tumorigenic capacity resides in several distinct subpopulations within melanoma. Since their metastatic potential is linked to their ability to recruit lymphatic vessels, we aimed at identifying lymphangiogenic subpopulations by comparative in vitro ana...

journal_title：Human molecular genetics

authors： Swoboda A,Schanab O,Tauber S,Bilban M,Berger W,Petzelbauer P,Mikula M

更新日期：2012-08-01 00:00:00

abstract：:Ketosis-prone diabetes (KPD) is a rare form of type 2 diabetes, mostly observed in subjects of west African origin (west Africans and African-Americans), characterized by fulminant and phasic insulin dependence, but lacking markers of autoimmunity observed in type 1 diabetes. PAX4 is a transcription factor essential f...

journal_title：Human molecular genetics

authors： Mauvais-Jarvis F,Smith SB,Le May C,Leal SM,Gautier JF,Molokhia M,Riveline JP,Rajan AS,Kevorkian JP,Zhang S,Vexiau P,German MS,Vaisse C

更新日期：2004-12-15 00:00:00

abstract：:Proteolytic fragmentation of polyglutamine-expanded ataxin-3 is a concomitant and modifier of the molecular pathogenesis of Machado-Joseph disease (MJD), the most common autosomal dominant cerebellar ataxia. Calpains, a group of calcium-dependent cysteine proteases, are important mediators of ataxin-3 cleavage and imp...

journal_title：Human molecular genetics

authors： Weber JJ,Haas E,Maringer Y,Hauser S,Casadei NLP,Chishti AH,Riess O,Hübener-Schmid J

更新日期：2020-04-15 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：:Beside the well-known polyglutamine expansions involved in several neurodegenerative disorders, convergent recent findings pointed to the expansion of polyalanine stretches as a disease mechanism in congenital malformations, skeletal dysplasia and nervous system anomalies. Polyalanine stretches have been predicted in ...

journal_title：Human molecular genetics

authors： Amiel J,Trochet D,Clément-Ziza M,Munnich A,Lyonnet S

更新日期：2004-10-01 00:00:00

abstract：:The members of the huntingtin-interacting protein-1 (HIP1) family, HIP1 and HIP1-related (HIP1r), are multi-domain proteins that interact with inositol lipids, clathrin and actin. HIP1 is over-expressed in a variety of cancers and both HIP1 and HIP1r prolong the half-life of multiple growth factor receptors. To better...

journal_title：Human molecular genetics

authors： Bradley SV,Hyun TS,Oravecz-Wilson KI,Li L,Waldorff EI,Ermilov AN,Goldstein SA,Zhang CX,Drubin DG,Varela K,Parlow A,Dlugosz AA,Ross TS

更新日期：2007-06-01 00:00:00

abstract：:Lysosomal neuraminidase is the key enzyme for the intralysosomal catabolism of sialylated glycoconjugates and is deficient in two neurodegenerative lysosomal disorders, sialidosis and galactosialidosis. Here we report the identification of eight novel mutations in the neuraminidase gene of 11 sialidosis patients with ...

journal_title：Human molecular genetics

authors： Bonten EJ,Arts WF,Beck M,Covanis A,Donati MA,Parini R,Zammarchi E,d'Azzo A

更新日期：2000-11-01 00:00:00

abstract：:Several known or putative glycosyltransferases are required for the synthesis of laminin-binding glycans on alpha-dystroglycan (αDG), including POMT1, POMT2, POMGnT1, LARGE, Fukutin, FKRP, ISPD and GTDC2. Mutations in these glycosyltransferase genes result in defective αDG glycosylation and reduced ligand binding by α...

journal_title：Human molecular genetics

authors： Buysse K,Riemersma M,Powell G,van Reeuwijk J,Chitayat D,Roscioli T,Kamsteeg EJ,van den Elzen C,van Beusekom E,Blaser S,Babul-Hirji R,Halliday W,Wright GJ,Stemple DL,Lin YY,Lefeber DJ,van Bokhoven H

更新日期：2013-05-01 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：:Fragile X Syndrome (FXS) is a learning disability seen in individuals who have >200 CGG•CCG repeats in the 5' untranslated region of the X-linked FMR1 gene. Such alleles are associated with a fragile site, FRAXA, a gap or constriction in the chromosome that is coincident with the repeat and is induced by folate stress...

journal_title：Human molecular genetics

authors： Yudkin D,Hayward BE,Aladjem MI,Kumari D,Usdin K

更新日期：2014-06-01 00:00:00

abstract：:Parkinson disease (PD) is the second most common neurodegenerative disorder. We studied 754 affected individuals, comprising 425 sibling pairs, to identify PD susceptibility genes. Screening of the parkin gene was performed in a subset of the sample having earlier age of PD onset or a positive LOD score with a marker ...

journal_title：Human molecular genetics

authors： Pankratz N,Nichols WC,Uniacke SK,Halter C,Murrell J,Rudolph A,Shults CW,Conneally PM,Foroud T,Parkinson Study Group.

更新日期：2003-10-15 00:00:00

abstract：:Although hundreds of genome-wide association studies-implicated loci have been reported for adult obesity-related traits, less is known about the genetics specific for early-onset obesity and with only a few studies conducted in non-European populations to date. Searching for additional genetic variants associated wit...

journal_title：Human molecular genetics

authors： Bradfield JP,Vogelezang S,Felix JF,Chesi A,Helgeland Ø,Horikoshi M,Karhunen V,Lowry E,Cousminer DL,Ahluwalia TS,Thiering E,Boh ET,Zafarmand MH,Vilor-Tejedor N,Wang CA,Joro R,Chen Z,Gauderman WJ,Pitkänen N,Parra EJ,

更新日期：2019-10-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a common pediatric neuromuscular disorder caused by insufficient levels of the survival of motor neuron (SMN) protein. Studies involving SMA patients and animal models expressing the human SMN2 gene have yielded relatively little information about the earliest cellular consequences of ...

journal_title：Human molecular genetics

authors： Kariya S,Park GH,Maeno-Hikichi Y,Leykekhman O,Lutz C,Arkovitz MS,Landmesser LT,Monani UR

更新日期：2008-08-15 00:00:00

abstract：:Deficiency of thymidine kinase 2 (TK2) is a frequent cause of isolated myopathy or encephalomyopathy in children with mitochondrial DNA (mtDNA) depletion. To determine the bases of disease onset, organ specificity and severity of TK2 deficiency, we have carefully characterized Tk2 H126N knockin mice (Tk2-/-). Although...

journal_title：Human molecular genetics

authors： Dorado B,Area E,Akman HO,Hirano M

更新日期：2011-01-01 00:00:00

abstract：:According to the telomere hypothesis of senescence, the progressive shortening of telomeres that occurs upon division of normal somatic cells eventually leads to cellular senescence. The immortalisation of human cells is associated with the acquisition of a telomere maintenance mechanism which is usually dependent upo...

journal_title：Human molecular genetics

authors： Bryan TM,Marusic L,Bacchetti S,Namba M,Reddel RR

更新日期：1997-06-01 00:00:00

abstract：:Spinal muscular atrophy (SMA), a frequent neurodegenerative disease, is caused by reduced levels of functional survival of motoneuron (SMN) protein. SMN is involved in multiple pathways, including RNA metabolism and splicing as well as motoneuron development and function. Here we provide evidence for a major contribut...

journal_title：Human molecular genetics

authors： Nölle A,Zeug A,van Bergeijk J,Tönges L,Gerhard R,Brinkmann H,Al Rayes S,Hensel N,Schill Y,Apkhazava D,Jablonka S,O'mer J,Srivastav RK,Baasner A,Lingor P,Wirth B,Ponimaskin E,Niedenthal R,Grothe C,Claus P

更新日期：2011-12-15 00:00:00

abstract：:Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is thought to underlie FSHD pathophysiology. However, no one knows what triggers muscle defect and when alteration arises. ...

journal_title：Human molecular genetics

authors： Broucqsault N,Morere J,Gaillard MC,Dumonceaux J,Torrents J,Salort-Campana E,Maues De Paula A,Bartoli M,Fernandez C,Chesnais AL,Ferreboeuf M,Sarda L,Dufour H,Desnuelle C,Attarian S,Levy N,Nguyen K,Magdinier F,Roche S

更新日期：2013-10-15 00:00:00

abstract：:An amphibian homologue of the human cystic fibrosis transmembrane conductance regulator (CFTR) gene has been isolated from Xenopus laevis by polymerase chain reaction (PCR) amplification. The 4455bp sequence encodes a predicted polypeptide of 1485 amino acids which has an overall homology at the amino acid level of 77...

journal_title：Human molecular genetics

authors： Tucker SJ,Tannahill D,Higgins CF

更新日期：1992-05-01 00:00:00

abstract：:Ataxia oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease caused by mutations in APTX, which encodes the DNA strand-break repair protein aprataxin (APTX). CoQ10 deficiency has been identified in fibroblasts and muscle of AOA1 patients carrying the common W279X mutation, and aprataxin has been localized...

journal_title：Human molecular genetics

authors： Garcia-Diaz B,Barca E,Balreira A,Lopez LC,Tadesse S,Krishna S,Naini A,Mariotti C,Castellotti B,Quinzii CM

更新日期：2015-08-15 00:00:00

abstract：:PAX genes encode nuclear transcription factors which are rapidly becoming regarded as major controllers of developmental processes in both vertebrates and invertebrates. Mutations in murine Pax genes underlie three natural mouse alleles and two corresponding human syndromes. Murine Pax genes have been shown to be prot...

journal_title：Human molecular genetics

authors： Stuart ET,Gruss P

更新日期：1995-01-01 00:00:00

abstract：:Inherited mutations in the BRCA1 gene are known to confer a predisposition to breast and ovarian cancer. We have first characterized 19 sequence variants in the BRCA1 gene during mutation screening by direct sequencing using DNA samples from breast/ovarian cancer patients or obligate carriers. The frequencies of these...

journal_title：Human molecular genetics

authors： Durocher F,Shattuck-Eidens D,McClure M,Labrie F,Skolnick MH,Goldgar DE,Simard J

更新日期：1996-06-01 00:00:00

abstract：:Increased cardiac angiotensin converting enzyme-1 (ACE1) is found in individuals who carry a deletion in intron 16 of ACE1 gene or in individuals who suffer from cardiac disorders, such as hypertrophy. However, whether a single increase in ACE1 expression leads to spontaneous cardiac defects remains unknown. To determ...

journal_title：Human molecular genetics

authors： Tian XL,Pinto YM,Costerousse O,Franz WM,Lippoldt A,Hoffmann S,Unger T,Paul M

更新日期：2004-07-15 00:00:00

abstract：:Gene amplification is a common phenomenon in malignant neoplasms of all types. One mechanism behind increased gene copy number is the formation of ring chromosomes. Such structures are mitotically unstable and during tumor progression they accumulate material from many different parts of the genome. Hence, their conte...

journal_title：Human molecular genetics

authors： Nord KH,Macchia G,Tayebwa J,Nilsson J,Vult von Steyern F,Brosjö O,Mandahl N,Mertens F

更新日期：2014-02-15 00:00:00

abstract：:We investigated the population differences in patterns of single nucleotide polymorphisms (SNPs) for a 400 kb olfactory receptor (OR) gene cluster on human chromosome 17p13.3. Samples were drawn from 35 individuals, of four different ethnogeographical origins: Pygmies, Bedouins, Yemenite Jews and Ashkenazi Jews. Of th...

journal_title：Human molecular genetics

authors： Menashe I,Man O,Lancet D,Gilad Y

更新日期：2002-06-01 00:00:00

abstract：:Recent genome-wide association studies (GWAS) and subsequent meta-analyses have identified over 25 SNPs at 18 loci, together accounting for >15% of the genetic susceptibility to testicular germ cell tumour (TGCT). To identify further common SNPs associated with TGCT, here we report a three-stage experiment, involving ...

journal_title：Human molecular genetics

authors： Litchfield K,Sultana R,Renwick A,Dudakia D,Seal S,Ramsay E,Powell S,Elliott A,Warren-Perry M,Eeles R,Peto J,Kote-Jarai Z,Muir K,Nsengimana J,UKTCC.,Stratton MR,Easton DF,Bishop DT,Huddart RA,Rahman N,Turnbull C,

更新日期：2015-02-15 00:00:00

abstract：:Marfan syndrome is an autosomal dominant disorder mainly caused by mutations within FBN1 gene. The disease displays large variability in age of onset or severity and very poor phenotype/genotype correlations have been demonstrated. We investigated the hypothesis that phenotype severity could be related to the variable...

journal_title：Human molecular genetics

authors： Aubart M,Gross MS,Hanna N,Zabot MT,Sznajder M,Detaint D,Gouya L,Jondeau G,Boileau C,Stheneur C

更新日期：2015-05-15 00:00:00

abstract：:Degenerate primer pairs that include consensus sequences of evolutionary conserved portions of protein families (BLOCKs or ancient conserved regions) can be used to screen by polymerase chain reaction (PCR) for cognate cDNAs and YACs through much of phylogeny. Nine such primer pairs were developed, and five with sites...

journal_title：Human molecular genetics

authors： D'Esposito M,Pilia G,Schlessinger D

更新日期：1994-05-01 00:00:00

abstract：:Zfp42/Rex1 (reduced expression gene 1) is a well-known stem-cell marker that has been duplicated from YY1 in the eutherian lineage. In the current study, we characterized the in vivo roles of Rex1 using a mutant mouse line disrupting its transcription. In contrast to the ubiquitous expression of YY1, Rex1 is expressed...

journal_title：Human molecular genetics

authors： Kim JD,Kim H,Ekram MB,Yu S,Faulk C,Kim J

更新日期：2011-04-01 00:00:00

abstract：:To examine whether the dosage effect of germ-line mutations in patients with familial adenomatous polyposis (FAP) is sufficient to cause colorectal adenomas, or an additional somatic mutation of the normal allele is required as well, we have investigated somatic mutations of the APC gene in multiple adenomas developed...

journal_title：Human molecular genetics

authors： Ichii S,Horii A,Nakatsuru S,Furuyama J,Utsunomiya J,Nakamura Y

更新日期：1992-09-01 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