Evidence for translational regulation of the imprinted Snurf-Snrpn locus in mice.

abstract：:Microsatellite instability (MSI) characterizes tumors arising in patients with hereditary non-polyposis colorectal cancer (HNPCC) syndrome. HNPCC is a hereditary autosomal dominant disease caused by germline mutations in genes from the DNA (MMR) mismatch repair system. In these tumors, the loss of MMR compromises the ...

journal_title：Human molecular genetics

authors： Alazzouzi H,Domingo E,González S,Blanco I,Armengol M,Espín E,Plaja A,Schwartz S,Capella G,Schwartz S Jr

更新日期：2005-01-15 00:00:00

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：:Loss-of-function mutations of the X-chromosome gene UPF3B cause male neurodevelopmental disorders (NDDs) via largely unknown mechanisms. We investigated initially by interrogating a novel synonymous UPF3B variant in a male with absent speech. In silico and functional studies using cell lines derived from this individu...

journal_title：Human molecular genetics

authors： Domingo D,Nawaz U,Corbett M,Espinoza JL,Tatton-Brown K,Coman D,Wilkinson MF,Gecz J,Jolly LA

更新日期：2020-08-29 00:00:00

abstract：:PTEN-induced putative kinase 1 (PINK1) and Parkin act in a common pathway to regulate mitochondrial dynamics, the involvement of which in the pathogenesis of Parkinson's disease (PD) is increasingly being appreciated. However, how the PINK1/Parkin pathway influences mitochondrial function is not well understood, and t...

journal_title：Human molecular genetics

authors： Yu W,Sun Y,Guo S,Lu B

更新日期：2011-08-15 00:00:00

abstract：:Intronic expansion of a hexanucleotide GGGGCC repeat in the chromosome 9 open reading frame 72 (C9ORF72) gene is the major cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. However, the cellular function of the C9ORF72 protein remains unknown. Here, we demonstrate that C9ORF72 regulate...

journal_title：Human molecular genetics

authors： Farg MA,Sundaramoorthy V,Sultana JM,Yang S,Atkinson RA,Levina V,Halloran MA,Gleeson PA,Blair IP,Soo KY,King AE,Atkin JD

更新日期：2014-07-01 00:00:00

abstract：:NSDHL, for NAD(P)H steroid dehydrogenase-like, encodes a sterol dehydrogenase or decarboxylase involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis. Mutations in this gene are associated with human CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and li...

journal_title：Human molecular genetics

authors： Caldas H,Herman GE

更新日期：2003-11-15 00:00:00

abstract：:The most common form of hereditary haemochromatosis is an adult-onset condition usually associated with the HFE C282Y/C282Y genotype. The phenotypic expression of this genotype is heterogeneous and depends on a complex interplay of genetic and non-genetic factors. The aim of the present study was to determine if mutat...

journal_title：Human molecular genetics

authors： Le Gac G,Scotet V,Ka C,Gourlaouen I,Bryckaert L,Jacolot S,Mura C,Férec C

更新日期：2004-09-01 00:00:00

abstract：:An infant presented with fatal infantile lactic acidosis and cardiomyopathy, and was found to have profoundly decreased activity of respiratory chain complex I in muscle, heart and liver. Exome sequencing revealed compound heterozygous mutations in NDUFB10, which encodes an accessory subunit located within the PD part...

journal_title：Human molecular genetics

authors： Friederich MW,Erdogan AJ,Coughlin CR 2nd,Elos MT,Jiang H,O'Rourke CP,Lovell MA,Wartchow E,Gowan K,Chatfield KC,Chick WS,Spector EB,Van Hove JLK,Riemer J

更新日期：2017-02-15 00:00:00

abstract：:We have used inbred and congenic rat strains in F(2) segregation studies to discover epistasis in a polygenic model of hypertension. Previously, we have found evidence that the presence of a blood pressure quantitative trait locus (QTL) on chromosome 1 is conditional upon the allele status of chromosome 10. To prove t...

journal_title：Human molecular genetics

authors： Monti J,Plehm R,Schulz H,Ganten D,Kreutz R,Hübner N

更新日期：2003-02-15 00:00:00

abstract：:Rheumatoid arthritis (RA) is the commonest chronic, systemic, inflammatory disorder affecting ∼1% of the world population. It has a strong genetic component and a growing number of associated genes have been discovered in genome-wide association studies (GWAS), which nevertheless only account for 23% of the total gene...

journal_title：Human molecular genetics

authors： Eleftherohorinou H,Hoggart CJ,Wright VJ,Levin M,Coin LJ

更新日期：2011-09-01 00:00:00

abstract：:Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disease that has been linked to deletions within a tandem array of 3.2 kb repeats adjacent to the telomere of 4q. These repeats are also present in other locations in the human genome, including the short arms of all the acrocentric c...

journal_title：Human molecular genetics

authors： Winokur ST,Bengtsson U,Vargas JC,Wasmuth JJ,Altherr MR,Weiffenbach B,Jacobsen SJ

更新日期：1996-10-01 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：:Genome-wide association studies of colorectal cancer (CRC) have identified a number of common variants associated with modest risk, including rs3802842 at chromosome 11q23.1. Several genes map to this region but rs3802842 does not map to any known transcribed or regulatory sequences. We reasoned, therefore, that rs380...

journal_title：Human molecular genetics

authors： Biancolella M,Fortini BK,Tring S,Plummer SJ,Mendoza-Fandino GA,Hartiala J,Hitchler MJ,Yan C,Schumacher FR,Conti DV,Edlund CK,Noushmehr H,Coetzee SG,Bresalier RS,Ahnen DJ,Barry EL,Berman BP,Rice JC,Coetzee GA,Casey G

更新日期：2014-04-15 00:00:00

abstract：:The mutation causing myotonic dystrophy (DM) has recently been identified as an unstable CTG trinucleotide repeat located in the 3' untranslated region of a gene encoding for a protein with putative serine-threonine protein kinase activity. In this report we present the genomic sequences of the human and murine DM kin...

journal_title：Human molecular genetics

authors： Mahadevan MS,Amemiya C,Jansen G,Sabourin L,Baird S,Neville CE,Wormskamp N,Segers B,Batzer M,Lamerdin J

更新日期：1993-03-01 00:00:00

abstract：:Aberrant tau protein accumulation drives neurofibrillary tangle (NFT) formation in several neurodegenerative diseases. Currently, efforts to elucidate pathogenic mechanisms and assess the efficacy of therapeutic targets are limited by constraints of existing models of tauopathy. In order to generate a more versatile m...

journal_title：Human molecular genetics

authors： Cook C,Kang SS,Carlomagno Y,Lin WL,Yue M,Kurti A,Shinohara M,Jansen-West K,Perkerson E,Castanedes-Casey M,Rousseau L,Phillips V,Bu G,Dickson DW,Petrucelli L,Fryer JD

更新日期：2015-11-01 00:00:00

abstract：:The widespread use of persistent organic polybrominated diphenyl ethers (PBDEs) as commercial flame retardants has raised concern about potential long-lived effects on human health. Epigenetic mechanisms, such as DNA methylation, are responsive to environmental influences and have long-lasting consequences. Autism spe...

journal_title：Human molecular genetics

authors： Woods R,Vallero RO,Golub MS,Suarez JK,Ta TA,Yasui DH,Chi LH,Kostyniak PJ,Pessah IN,Berman RF,LaSalle JM

更新日期：2012-06-01 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：:Trinucleotide repeats at five disease loci (DM, DRPLA, HD, SBMA and SCA1) were surveyed in phenotypically normal individuals from three continental populations. This is the first analysis to examine the population dynamics of these five disease-related trinucleotide repeats in the same individuals from worldwide popul...

journal_title：Human molecular genetics

authors： Watkins WS,Bamshad M,Jorde LB

更新日期：1995-09-01 00:00:00

abstract：:ARHI has been identified as a maternally imprinted tumor suppressor gene that maps to chromosome 1p31 and whose expression is markedly down-regulated in breast cancer. To explore possible mechanisms that could silence ARHI expression, we have tested the importance of DNA methylation, histone acetylation and histone me...

journal_title：Human molecular genetics

authors： Fujii S,Luo RZ,Yuan J,Kadota M,Oshimura M,Dent SR,Kondo Y,Issa JP,Bast RC Jr,Yu Y

更新日期：2003-08-01 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：:Ribonuclease H2 plays an essential role for genome stability as it removes ribonucleotides misincorporated into genomic DNA by replicative polymerases and resolves RNA/DNA hybrids. Biallelic mutations in the genes encoding the three RNase H2 subunits cause Aicardi-Goutières syndrome (AGS), an early-onset inflammatory ...

journal_title：Human molecular genetics

authors： Kind B,Muster B,Staroske W,Herce HD,Sachse R,Rapp A,Schmidt F,Koss S,Cardoso MC,Lee-Kirsch MA

更新日期：2014-11-15 00:00:00

abstract：:Meningiomas are common nervous system tumors, whose molecular pathogenesis is poorly understood. To date, the most frequent genetic alteration detected in these tumors is loss of heterozygosity (LOH) on chromosome 22q. This finding led to the identification of the neurofibromatosis 2 (NF2) tumor suppressor gene on 22q...

journal_title：Human molecular genetics

authors： Gutmann DH,Donahoe J,Perry A,Lemke N,Gorse K,Kittiniyom K,Rempel SA,Gutierrez JA,Newsham IF

更新日期：2000-06-12 00:00:00

abstract：:Apoptosis is a morphologically distinct form of cell death involved in many physiological and pathological processes. The regulation of Fas/Apo-1 involved in membrane-mediated apoptosis has also been known to play crucial roles in many systems. More and more naturally occurring antisense RNAs are now known to regulate...

journal_title：Human molecular genetics

authors： Yan MD,Hong CC,Lai GM,Cheng AL,Lin YW,Chuang SE

更新日期：2005-06-01 00:00:00

abstract：:Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait. The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an impaired tonofilament network of differentiating epidermal cells. Here, we describe for the first time a kindred with rece...

journal_title：Human molecular genetics

authors： Müller FB,Huber M,Kinaciyan T,Hausser I,Schaffrath C,Krieg T,Hohl D,Korge BP,Arin MJ

更新日期：2006-04-01 00:00:00

abstract：:The HLA class II (DRB1 and DQB1) associations with sarcoidosis have been studied by several groups but often without consistent results. In this paper, we consider the hypothesis that observed inconsistencies relate to distinct, genetically encoded disease phenotypes which differ in prevalence between centres. We ther...

journal_title：Human molecular genetics

authors： Sato H,Woodhead FA,Ahmad T,Grutters JC,Spagnolo P,van den Bosch JM,Maier LA,Newman LS,Nagai S,Izumi T,Wells AU,du Bois RM,Welsh KI

更新日期：2010-10-15 00:00:00

abstract：:Bardet-Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, polydactyly and hypogonadism. Individuals with this disorder also have an increased incidence of hypertension, diabetes mellitus, and renal and cardiac anomalies. We previously identified a locu...

journal_title：Human molecular genetics

authors： Sheffield VC,Carmi R,Kwitek-Black A,Rokhlina T,Nishimura D,Duyk GM,Elbedour K,Sunden SL,Stone EM

更新日期：1994-08-01 00:00:00

abstract：:Cell pathology in lysosomal storage diseases is characterized by the formation of distended vacuoles with characteristics of lysosomes. Our previous studies in mucopolysaccharidosis type IIIB (MPSIIIB), a disease in which a genetic defect induces the accumulation of undigested heparan sulfate (HS) fragments, led to th...

journal_title：Human molecular genetics

authors： Roy E,Bruyère J,Flamant P,Bigou S,Ausseil J,Vitry S,Heard JM

更新日期：2012-04-01 00:00:00

abstract：:We have identified a rare mutation (T-45C) in the low density lipoprotein (LDL)-receptor gene in a Welsh patient with a clinical diagnosis of heterozygous familial hypercholesterolaemia (FH). The mutation is in the proximal Sp1 binding site in repeat 3 of the 42 bp region of the promoter required for sterol-dependent ...

journal_title：Human molecular genetics

authors： Sun XM,Neuwirth C,Wade DP,Knight BL,Soutar AK

更新日期：1995-11-01 00:00:00

abstract：:Adoptively transferred antigen-specific T cells that recognize tumor antigens through their native receptors have many potential benefits as treatment for virus-associated diseases and malignancies, due to their ability to selectively recognize tumor antigens, expand and persist to provide long-term protection. Infusi...

journal_title：Human molecular genetics

authors： Manzo T,Heslop HE,Rooney CM

更新日期：2015-10-15 00:00:00

abstract：:Genome-wide association studies (GWASs) identified over 500 single nucleotide polymorphisms (SNPs) influencing cancer risk. It is logical to expect the cancer-associated genes to cluster in pathways directly involved in carcinogenesis, e.g. cell cycle. Nevertheless, analyses of the GWAS-detected cancer risk genes usua...

journal_title：Human molecular genetics

authors： Gorlova OY,Demidenko EI,Amos CI,Gorlov IP

更新日期：2017-04-15 00:00:00