Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology.

abstract：:Five families with at least three generations of members affected with autosomal dominant spinocerebellar ataxia (SCA) were studied. HLA typing was carried out and the coded HLA haplotypes were used to calculate the likelihood of linkage using the LIPED computer program. The combined lod scores from these five familie...

journal_title：Human genetics

authors： Kumar D,Blank CE,Gelsthorpe K

更新日期：1986-04-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA) haplogroups are valuable for investigations in forensic science, molecular anthropology, and human genetics. In this study, we developed a custom panel of 61 mtDNA markers for high-throughput classification of European, African, and Native American/Asian mitochondrial haplogroup lineages. Usi...

journal_title：Human genetics

authors： Mitchell SL,Goodloe R,Brown-Gentry K,Pendergrass SA,Murdock DG,Crawford DC

更新日期：2014-07-01 00:00:00

abstract：:Congenital motor nystagmus (CMN) is characterized by early-onset bilateral ocular oscillations without other ocular deficits. To date, mutations in only one gene have been identified to be responsible for CMN, i.e., FRMD7 for X-linked CMN. Four loci for autosomal dominant CMN, including NYS7 (OMIM 614826), have been m...

journal_title：Human genetics

authors： Sun W,Li S,Jia X,Wang P,Hejtmancik JF,Xiao X,Zhang Q

更新日期：2020-08-01 00:00:00

abstract：:The gene for human interleukin 7 (IL7) maps to chromosome 8 by Southern analysis of a somatic cell hybrid panel and to 8q12-q13 by in situ hybridization. ...

journal_title：Human genetics

authors： Sutherland GR,Baker E,Fernandez KE,Callen DF,Goodwin RG,Lupton S,Namen AE,Shannon MF,Vadas MA

更新日期：1989-07-01 00:00:00

abstract：:The Beckwith-Wiedemann syndrome (BWS) is characterised by multiple congenital abnormalities, including exomphalos, macroglossia, and gigantism. It is also associated with an elevated risk of embryonal neoplasia and occasionally with constitutional anomalies of chromosome band 11p15. A common pathogenetic mechanism for...

journal_title：Human genetics

authors： Little MH,Thomson DB,Hayward NK,Smith PJ

更新日期：1988-06-01 00:00:00

abstract：:Recent studies have suggested that polymorphisms of the androgen receptor gene ( AR) may influence the risk of prostate cancer (PC) development and progression. Here, we analyzed the length of the CAG repeat of the AR gene in 1363 individuals, including patients with PC, benign prostate hyperplasia (BPH), and populati...

journal_title：Human genetics

authors： Mononen N,Ikonen T,Autio V,Rökman A,Matikainen MP,Tammela TL,Kallioniemi OP,Koivisto PA,Schleutker J

更新日期：2002-08-01 00:00:00

abstract：:The motor neuron diseases (MND) are a group of related neurodegenerative diseases that cause the relative selective progressive death of motor neurons. These diseases range from slowly progressive forms including hereditary motor neuropathy (HMN), to the rapidly progressive disorder amyotrophic lateral sclerosis (ALS)...

journal_title：Human genetics

authors： Gopinath S,Blair IP,Kennerson ML,Durnall JC,Nicholson GA

更新日期：2007-06-01 00:00:00

abstract：:The cDNA clone encoding human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-1 (GalNAc-T1) was isolated from colon tissue by a reverse transcriptase-polymerase chain reaction (RT-PCR). Using fluorescence in situ hybridization, the position of the GalNAc-T1 gene was shown to be localiz...

journal_title：Human genetics

authors： Takai S,Hinoda Y,Adachi T,Imai K,Oshima M

更新日期：1997-03-01 00:00:00

abstract：:The severe neonatal centronuclear/myotubular myopathy (XLMTM) is an X-linked disorder characterized by generalized muscle weakness, hypotonia and serious respiratory insufficiency. The gene for this disease has been assigned to the long arm of chromosome X in the Xq28 band. Ca2+ ATPase isoform-3 (ATP2B3) has also been...

journal_title：Human genetics

authors： Smolenicka Z,Guerini D,Carafoli E,Kress W,Liechti-Gallati S

更新日期：1996-12-01 00:00:00

abstract：:Few studies have examined the association of SNPs in the adiponectin (ADIPOQ) and adiponectin receptor 1 and 2 (ADIPOR1, ADIPOR2) genes with the euglycemic clamp, i.e. the gold standard measure of insulin sensitivity. The association of comprehensive tag SNPs in these genes with insulin sensitivity was examined in a c...

journal_title：Human genetics

authors： Rasmussen-Torvik LJ,Pankow JS,Jacobs DR Jr,Steinberger J,Moran A,Sinaiko AR

更新日期：2009-02-01 00:00:00

abstract：:We present a linkage study in a four-generation autosomal dominant cerebellar ataxia (ADCA) family of Dutch ancestry. The family shows a clinically and genetically distinct form of ADCA. This neurodegenerative disorder manifests in the family as a relatively mild ataxia syndrome with some additional characteristic sym...

journal_title：Human genetics

authors： Verbeek DS,Schelhaas JH,Ippel EF,Beemer FA,Pearson PL,Sinke RJ

更新日期：2002-10-01 00:00:00

abstract：:During the last few years, much progress has been made in the treatment of lysosomal storage disorders. In the past, no specific therapy was available for the affected patients, and management consisted solely of supportive care and treatment of complications. Since enzyme replacement therapy has been successfully int...

journal_title：Human genetics

authors： Beck M

更新日期：2007-03-01 00:00:00

abstract：:The two human proteins with a VPS10 domain, SorLA and sortilin, both bind neuropeptides. Searching for other VPS10-domain proteins in the database revealed three new putative human neuropeptide receptors. The new receptors were designated SorCS1, SorCS2 and SorCS3, due to their identical domain composition, which, exc...

journal_title：Human genetics

authors： Hampe W,Rezgaoui M,Hermans-Borgmeyer I,Schaller HC

更新日期：2001-06-01 00:00:00

abstract：:A meta-analysis assessed whether the Ala45Thr polymorphism of the neurogenic differentiation 1 (NEUROD1) gene is associated with increased risk of diabetes mellitus type 1 (T1D) or type 2 (T2D). Fourteen case-control studies were analyzed, including genotype data on 3,057 patients with diabetes (T1D n=1,213, T2D n=1,8...

journal_title：Human genetics

authors： Kavvoura FK,Ioannidis JP

更新日期：2005-02-01 00:00:00

abstract：:Lung inflammation is the major pathogenetic feature for both chronic obstructive pulmonary disease (COPD) and lung cancer. The nuclear factor-kappa B (NFκB) and its inhibitor (IκB) play crucial roles in inflammatory. Here, we tested the hypothesis that single nucleotide polymorphisms (SNPs) in NFκB/IκB confer consiste...

journal_title：Human genetics

authors： Huang D,Yang L,Liu Y,Zhou Y,Guo Y,Pan M,Wang Y,Tan Y,Zhong H,Hu M,Lu W,Ji W,Wang J,Ran P,Zhong N,Zhou Y,Lu J

更新日期：2013-04-01 00:00:00

abstract：:A male infant with cri du chat syndrome was found to have a deletion of the short arm of No. 5 chromosome and which was due to maternal reciprocal translocation t(5;6)(p13;q27). His elder sister and his grandfather were also identified as the translocation carriers. ...

journal_title：Human genetics

authors： Hashimoto T,Tsukino R,Chiyo H,Furuyama J

更新日期：1980-02-01 00:00:00

abstract：:We have determined the subchromosomal location of the human insulin gene by analyzing DNA isolated from sorted human metaphase chromosomes. Metaphase chromosome suspensions were sorted into fractions according to relative Hoechst fluorescence intensity by the fluorescence activated chromosome sorter. The chromosomal D...

journal_title：Human genetics

authors： Lebo RV,Kan YW,Cheung MC,Carrano AV,Yu LC,Chang JC,Cordell B,Goodman HM

更新日期：1982-01-01 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：:Heritability, the fraction of phenotypic variation explained by genetic variation, has been estimated for many phenotypes in a range of populations, organisms, and time points. The recent development of efficient genotyping and sequencing technology has led researchers to attempt to identify the genetic variants respo...

journal_title：Human genetics

authors： Zaitlen N,Kraft P

更新日期：2012-10-01 00:00:00

abstract：:Stroke is a common complex trait and does not follow Mendelian pattern of inheritance. Gene-gene or gene-environment interactions may be responsible for the complex trait. How the interactions contribute to stroke is still under research. This study aimed to explore the association between gene-gene interactions and s...

journal_title：Human genetics

authors： Liu J,Sun K,Bai Y,Zhang W,Wang X,Wang Y,Wang H,Chen J,Song X,Xin Y,Liu Z,Hui R

更新日期：2009-06-01 00:00:00

abstract：:Cytogenetic analysis of 26 non-Burkitt lymphomas having abnormal clones, revealed non-random involvement of certain chromosomes in numerical and structural changes. In some cases, chromosome structural abnormalities could be correlated with histopathology of the tumours. A combined analysis of cases in the present ser...

journal_title：Human genetics

authors： Reeves BR,Pickup VL

更新日期：1980-01-01 00:00:00

abstract：:Cytogenetic preparations from oocytes remaining unfertilised after in vitro fertilisation revealed single chromatids (as opposed to whole chromosomes) in 4 out of 38 meiosis II metaphases. In one oocyte, a single chromatid was present in addition to the normal 23,X complement, and in three oocytes, two identical but s...

journal_title：Human genetics

authors： Angell RR

更新日期：1991-02-01 00:00:00

abstract：:A Drosophila-related expressed sequence tag (DRES) with sequence similarity to the peanut gene has previously been localized to human chromosome 22q11. We have isolated the cDNA corresponding to this DRES and show that it is a novel member of the family of septin genes, which encode proteins with GTPase activity thoug...

journal_title：Human genetics

authors： McKie JM,Sutherland HF,Harvey E,Kim UJ,Scambler PJ

更新日期：1997-11-01 00:00:00

abstract：:Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) near the human leukocyte antigen (HLA)-DP loci that were significantly correlated with outcomes of hepatitis B virus (HBV) infection. We performed a case-control study nested in a well-characterized cohort of booster recipients to a...

journal_title：Human genetics

authors： Wu TW,Chu CC,Ho TY,Chang Liao HW,Lin SK,Lin M,Lin HH,Wang LY

更新日期：2013-10-01 00:00:00

abstract：:A novel human nm23/nucleoside diphosphate (NDP) kinase gene, called nm23-H4, was identified by screening a human stomach cDNA library with a probe generated by amplification by reverse transcription-polymerase chain reaction. The primers were designed from publicly available database cDNA sequences selected according ...

journal_title：Human genetics

authors： Milon L,Rousseau-Merck MF,Munier A,Erent M,Lascu I,Capeau J,Lacombe ML

更新日期：1997-04-01 00:00:00

abstract：:Haptoglobin types were determined on 211 patients with leukemia of the four most common types: acute lymphatic (ALL), chronic lymphatic (CLL), acute myeloid (AML), and chronic myeloid leukemia (CML). Frequency distributions of the three common Hp types in patients differed significantly from the control population. A ...

journal_title：Human genetics

authors： Nevo S,Tatarsky I

更新日期：1986-07-01 00:00:00

abstract：:The largest class of de novo chromosomal rearrangements in Down syndrome are rea(21q21q). Classically, these rearrangements have been termed Robertsonian translocations, implying an attachment of two different chromosome 21 homologues. Additionally, a Robertsonian translocation between two chromosomes 21 cannot be dis...

journal_title：Human genetics

authors： Shaffer LG,Jackson-Cook CK,Meyer JM,Brown JA,Spence JE

更新日期：1991-02-01 00:00:00

abstract：:We have investigated the origin of rapidly adhering (RA) cells in three cases of neural tube defects (two anencephali, one encephalocele). We were able to demonstrate the presence of glial fibrillary acidic (GFA) protein in variable percentages (4--80%) of RA cells cultured for 4--6 days by use of indirect immunofluor...

journal_title：Human genetics

authors： Cremer M,Schachner M,Cremer T,Schmidt W,Voigtländer T

更新日期：1981-01-01 00:00:00

abstract：:A girl with 46, XX, del (11) (q23), inv (9) (p13, q13) is described. The patient shows many dysplastic signs mainly of the face and skull. The pericentric inversion of chromosome 9 has been inherited from the mother (46, XX, inv (9) (p13, q13)). ...

journal_title：Human genetics

authors： Zabel B,Hansen S,Hilig U,Gröting-Imhof H

更新日期：1977-04-07 00:00:00

abstract：:A single base substitution is responsible for the PI-Z mutation in alpha-1-antitrypsin (AAT) deficiency. The Z mutation, which is in exon V of the AAT gene, was analysed directly using a primer designed with a single base substitution in the DNA sequence. During the polymerase chain reaction with this primer, a restri...

journal_title：Human genetics

authors： Dry PJ

更新日期：1991-10-01 00:00:00