Pooled genome linkage scan of aggressive prostate cancer: results from the International Consortium for Prostate Cancer Genetics.

abstract：:Vitamin D inadequacy, assessed by 25-hydroxyvitamin D [25(OH)D], affects around 50% of adults in the United States and is associated with numerous adverse health outcomes. Blood 25(OH)D concentrations are influenced by genetic factors that may determine how much vitamin D intake is required to reach optimal 25(OH)D. D...

journal_title：Human genetics

authors： Hatchell KE,Lu Q,Hebbring SJ,Michos ED,Wood AC,Engelman CD

更新日期：2019-10-01 00:00:00

abstract：:A survey of more than 21 000 haemolysates from blood samples collected in various parts of south and southeast Asia, Australasia and the Western Pacific and examined in this laboratory has revealed several new alleles controlling variants of sMDH; in addition, further information has been provided on the distribution ...

journal_title：Human genetics

authors： Blake NM

更新日期：1978-07-12 00:00:00

abstract：:In man a common fragile site is known to occur at 3p14. We studied the expression of this fragility in a group of 70 normal healthy subjects. Chromosome breaks, chromatid breaks and gaps at 3p14 could be observed in every examined individual, and in a total of 7000 metaphases they were seen in a mean of 4% of cells. F...

journal_title：Human genetics

authors： Smeets DF,Scheres JM,Hustinx TW

更新日期：1986-03-01 00:00:00

abstract：:Extensive studies have been conducted on the analysis of genome function, especially on the expression quantitative trait loci (eQTL). These studies offered promising results for characterization of the functional sequencing variation and understanding of the basic processes of gene regulation. Parent of origin effect...

journal_title：Human genetics

authors： Deng S,Hardin J,Amos CI,Xiao F

更新日期：2020-08-01 00:00:00

abstract：:Coffin-Lowry syndrome (CLS) is a syndromic form of mental retardation caused by loss of function mutations in the X-linked RPS6KA3 gene, which encodes RSK2, a serine/threonine kinase acting in the MAPK/ERK pathway. The mouse invalidated for the Rps6ka3 (Rsk2-KO) gene displays learning and long-term spatial memory defi...

journal_title：Human genetics

authors： Mehmood T,Schneider A,Sibille J,Marques Pereira P,Pannetier S,Ammar MR,Dembele D,Thibault-Carpentier C,Rouach N,Hanauer A

更新日期：2011-03-01 00:00:00

abstract：:Fluorescence in situ hybridization (FISH) of chromosome 21 specific yeast artificial chromosome (YAC) clones after Alu-PCR (polymerase chain reaction) amplification has been used to find new region-specific DNA probes for the heterochromatic region of chromosome 21. Six overlapping YAC clones from a pericentromeric co...

journal_title：Human genetics

authors： Yurov YB,Laurent AM,Marcais B,Vorsanova SG,Roizes G

更新日期：1995-03-01 00:00:00

abstract：:A novel procedure is presented to estimate the ratio of male to female mutation rates for Duchenne muscular dystrophy (DMD). X-specific restriction fragment length polymorphisms are used to establish DNA haplotypes in three-generation DMD families. From the proportion of DMD patients who have inherited their maternal ...

journal_title：Human genetics

authors： Müller CR,Grimm T

更新日期：1986-10-01 00:00:00

abstract：:In general, osteogenesis imperfecta (brittle bone disease) is caused by heterozygous mutations in the genes encoding the alpha 1 or alpha 2 chains of type I collagen (COL1A1 and COL1A2, respectively). In this study we screened these genes in a proband presenting with the severe form (type III) of osteogenesis imperfec...

journal_title：Human genetics

authors： Rose NJ,Mackay K,Byers PH,Dalgleish R

更新日期：1995-02-01 00:00:00

abstract：:We have investigated the chromosome abnormalities in a female patient exhibiting a severe cognitive disability associated with complete agenesis of the corpus callosum and microcephaly. The patient carries a balanced de novo translocation t(2;14)(p22;q12), together with a neighbouring 720 kb inversion in chromosome 14...

journal_title：Human genetics

authors： Shoichet SA,Kunde SA,Viertel P,Schell-Apacik C,von Voss H,Tommerup N,Ropers HH,Kalscheuer VM

更新日期：2005-10-01 00:00:00

abstract：:Hybrids were performed between cell lines derived from four patients with Fanconi's anemia in which different biochemical lesions have been postulated. Complementation studies in these hybrids based on the rate of mitomycin C-induced chromosomal damage supported the concept of allelic mutations. It was therefore concl...

journal_title：Human genetics

authors： Zakrzewski S,Koch M,Sperling K

更新日期：1983-01-01 00:00:00

abstract：:The use of two genomic EcoRI fragments as probes is discussed. ...

journal_title：Human genetics

authors： Chen LZ,Easteal S

更新日期：1989-06-01 00:00:00

abstract：:Mutation accumulation has been proposed as a cause of senescence. During this process, age-related genetic and epigenetic mutations steadily accumulate. Cascading deleterious effects of mutations might initiate a steady "accumulation of deficits" in cells, despite the existence of repair mechanisms, leading to cellula...

journal_title：Human genetics

authors： Innan H,Veitia R,Govindaraju DR

更新日期：2020-03-01 00:00:00

abstract：:A gene for early-onset familial breast cancer has recently been mapped to the chromosome 17q12-23 region. In order to confirm the gene location, we have tested an extensive early-onset breast cancer family with 4 markers in this chromosome region. Linkage was negative with all 4 markers. This study suggests that there...

journal_title：Human genetics

authors： Sobol H,Mazoyer S,Narod SA,Smith SA,Black DM,Kerbrat P,Jamot B,Solomon E,Ponder BA,Guerin D

更新日期：1992-06-01 00:00:00

abstract：:DNA patterns from a pseudoautosomal variable number tandem repeat-like minisatellite (locus DXYS20) were compared in two samples: a Caucasian and a Black sample. We defined 3 types of DNA patterns named A, B and C, and found that these patterns have different frequencies in the Caucasian and Black groups. A set of all...

journal_title：Human genetics

authors： Rappold GA,Henke A,Pohlschmid M,Huisman TH

更新日期：1992-03-01 00:00:00

abstract：:Spi1 is an oncogene specifically activated in acute murine erythroleukemias induced by the Friend spleen focus forming virus (SFFV). Three probes were used for the chromosomal assignment of the human SPI1 oncogene: cDb1 and RaB2 correspond respectively to murine Spi1 and human SPI1 cDNA probes; C45a6B probe is a murin...

journal_title：Human genetics

authors： Nguyen VC,Ray D,Gross MS,de Tand MF,Frézal J,Moreau-Gachelin F

更新日期：1990-05-01 00:00:00

abstract：:Lesch-Nyhan disease is a neurogenetic disorder caused by mutation of the HPRT1 gene on the X chromosome. There is significant variation in the clinical phenotype, with more than 300 different known mutations. There are few studies that have addressed whether similar mutations result in similar phenotypes across differ...

journal_title：Human genetics

authors： Sampat R,Fu R,Larovere LE,Torres RJ,Ceballos-Picot I,Fischbach M,de Kremer R,Schretlen DJ,Puig JG,Jinnah HA

更新日期：2011-01-01 00:00:00

abstract：:Three families with anhidrotic ectodermal dysplasia (AED) have been studied by linkage analysis with seven polymorphic DNA markers from the Xp11-q21 region. Previously reported linkage to DXYS1 (Xq13-q21) has been confirmed (z (theta) = 4.08 at theta = 0.05) and we have also established linkage to another polymorphic ...

journal_title：Human genetics

authors： Hanauer A,Alembik Y,Arveiler B,Formiga L,Gilgenkrantz S,Mandel JL

更新日期：1988-10-01 00:00:00

abstract：:Neural tube defect disorders are developmental diseases that originate from an incomplete closure of the neural tube during embryogenesis. Despite high prevalence-1 out of 3000 live births-their etiology is not yet established and both environmental and genetic factors have been proposed, with a heritability rate of a...

journal_title：Human genetics

authors： Beaumont M,Akloul L,Carré W,Quélin C,Journel H,Pasquier L,Fradin M,Odent S,Hamdi-Rozé H,Watrin E,Dupé V,Dubourg C,David V

更新日期：2019-04-01 00:00:00

abstract：:Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder characterised by muscle weakness and wasting. There are two forms of DM; both of which are caused by the expansion of repeated DNA sequences. DM1 is associated with a CTG repeat located in the 3' untranslated region of a gene, DMPK and DM2 with a...

journal_title：Human genetics

authors： Machuca-Tzili L,Thorpe H,Robinson TE,Sewry C,Brook JD

更新日期：2006-11-01 00:00:00

abstract：:Nucleolar fusion and nucleolus formation occurred simultaneously, immediately after mitosis, in cultured human lymphocytes. Evidence is presented that in late telophase and post-telophase, the individual nucleolar organising site includes two components, represented in post-telophase by the nucleolus and its attached ...

journal_title：Human genetics

authors： Gani R

更新日期：1978-06-27 00:00:00

abstract：:Congenital hypothyroidism affects 1/3000-4000 newborns and it has been estimated that 10-20% are familial cases with an autosomal recessive mode of inheritance. Previous studies of mostly individual cases have led to the identification of mutations in a number of genes, indicating that it is a genetically heterogeneou...

journal_title：Human genetics

authors： Ahlbom BE,Yaqoob M,Gustavsson P,Abbas HG,Annerén G,Larsson A,Wadelius C

更新日期：2002-02-01 00:00:00

abstract：:Chromosomal studies of the bone marrow and cultured peripheral blood cells in a 42-year-old female with the clinical and laboratory features typical for CML revealed a previously undescribed variant translocation involving chromosomes 12 and 22. ...

journal_title：Human genetics

authors： van der Blij-Philipsen M,Breed WP,Hustinx TW

更新日期：1977-11-10 00:00:00

abstract：:The X chromosomes of individuals with isolated steroid sulphatase deficiency (X-linked ichthyosis) from ten families were studied by flow karyotype analysis. In four of the families, a small but significant reduction in the relative fluorescence of the X chromosome was detected consistent with a deletion ranging from ...

journal_title：Human genetics

authors： Cooke A,Gillard EF,Yates JR,Mitchell MJ,Aitken DA,Weir DM,Affara NA,Ferguson-Smith MA

更新日期：1988-05-01 00:00:00

abstract：:The Na+/H+ antiporter is a ubiquitous membrane-associated protein that plays an important role in the regulation of intracellular pH. APNH, a gene encoding the antiporter, has been cloned and mapped to the short arm of chromosome 1 by in situ hybridization. Using the polymerase chain reaction, we have amplified a 376 ...

journal_title：Human genetics

authors： Dudley CR,Giuffra LA,Tippett P,Kidd KK,Reeders ST

更新日期：1990-11-01 00:00:00

abstract：:Ten restriction fragment length polymorphisms of the LDL receptor gene were used for haplotype analysis in 12 unrelated patients with homozygous familial hypercholesterolemia. These patients were drawn from the Black, Coloured, and White population groups and collectively represent 24 mutant alleles underlying the FH ...

journal_title：Human genetics

authors： Henderson HE,Kotze MJ,Berger GM

更新日期：1989-08-01 00:00:00

abstract：:Three Japanese glucose 6-phosphate dehydrogenase (G6PD) variants were investigated. G6PD 'Mediterranean-like' had markedly decreased activity, normal electrophoretic mobility, low Km G6P, low Km NADP, increased utilization of all three substrate analogues (2-deoxy-G6P, Gal-6P, and deamino-NADP) and slightly decreased ...

journal_title：Human genetics

authors： Miwa SH,Nakashima K,Ono J,Fujii H,Suzuki E

更新日期：1977-05-10 00:00:00

abstract：:We investigated common length polymorphisms in the hypervariable region located 3' to the human gene encoding apolipoprotein B (APOB 3' HVR) as part of the "Pathobiological Determinants of Atherosclerosis in Youth (PDAY)" study. PDAY is a multicenter study of young persons who died of external causes (accident, homici...

journal_title：Human genetics

authors： Hixson JE,Powers PK,McMahan CA

更新日期：1993-06-01 00:00:00

abstract：:The marriage rate of epileptic patients was 62% in males and 78% in females. Compared with the rates in the general population, the male patients had a 15% lower rate, but there was no difference in females. There were 263 patients with at least one offspring selected for the study. There were 234 sons and 272 daughte...

journal_title：Human genetics

authors： Tsuboi T,Endo S

更新日期：1977-04-15 00:00:00

abstract：:Hand-foot-genital syndrome (HFGS) is a dominantly inherited congenital malformation affecting the distal limbs and genitourinary tract. Here, we describe the phenotype and its molecular basis in a family that presented with HFGS. Genetic analysis revealed that the condition is caused by an 18-bp in-frame duplication w...

journal_title：Human genetics

authors： Utsch B,Becker K,Brock D,Lentze MJ,Bidlingmaier F,Ludwig M

更新日期：2002-05-01 00:00:00

abstract：:Uniparental disomy (UPD) is defined as the presence of a chromosome pair that derives from only one parent in a diploid individual. The human TRKA gene on chromosome 1q21-q22 encodes a receptor tyrosine kinase for nerve growth factor and is responsible for an autosomal recessive genetic disorder: congenital insensitiv...

journal_title：Human genetics

authors： Miura Y,Hiura M,Torigoe K,Numata O,Kuwahara A,Matsunaga M,Hasegawa S,Boku N,Ino H,Mardy S,Endo F,Matsuda I,Indo Y

更新日期：2000-09-01 00:00:00