Joint modeling of eQTLs and parent-of-origin effects using an orthogonal framework with RNA-seq data.

abstract：:Assigning a pathogenic role to mitochondrial DNA (mtDNA) variants and unveiling the potential involvement of the mitochondrial genome in diseases are challenging tasks in human medicine. Assuming that rare variants are more likely to be damaging, we designed a phylogeny-based prioritization workflow to obtain a reliab...

journal_title：Human genetics

authors： Santorsola M,Calabrese C,Girolimetti G,Diroma MA,Gasparre G,Attimonelli M

更新日期：2016-01-01 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：:Polyclonal antibodies were obtained from rabbits by injection of iduronate sulfatase purified 35,000-fold from human placenta, after elution of the enzyme from sodium dodecyl sulfate (SDS) polyacrylamide gels. The specificity of these antibodies towards iduronate sulfatase was demonstrated by immunoprecipitation of en...

journal_title：Human genetics

authors： Daniele A,Di Natale P

更新日期：1987-03-01 00:00:00

abstract：:The inactivated X chromosome has a site of unusually frequent folding in region Xq1, whereas a fold in Xq1 is uncommon on the active X. We investigated the pattern of X chromosome folding in high-resolution GTG- and RBG-stained preparations from four women. In early metaphase cells, slightly more than 50% of late-repl...

journal_title：Human genetics

authors： Van Dyke DL,Worsham M,Weiss L

更新日期：1987-09-01 00:00:00

abstract：:We identified two additional mutations in the ferrochelatase gene in two Swiss patients with erythropoietic protoporphyria (EPP). Ferrochelatase cDNA from patients was amplified by the polymerase chain reaction (PCR) and subjected to mutation analysis by sequencing PCR products either directly or after subcloning. The...

journal_title：Human genetics

authors： Schneider-Yin X,Schäfer BW,Möhr P,Burg G,Minder EI

更新日期：1994-06-01 00:00:00

abstract：:Pathogenic mutations in TMPRSS3, which encodes a transmembrane serine protease, cause non-syndromic deafness DFNB8/10. Missense mutations map in the low density-lipoprotein receptor A (LDLRA), scavenger-receptor cysteine-rich (SRCR), and protease domains of the protein, indicating that all domains are important for it...

journal_title：Human genetics

authors： Wattenhofer M,Sahin-Calapoglu N,Andreasen D,Kalay E,Caylan R,Braillard B,Fowler-Jaeger N,Reymond A,Rossier BC,Karaguzel A,Antonarakis SE

更新日期：2005-10-01 00:00:00

abstract：:The gene frequency of beta-thalassemia among Filipinos is estimated to be 0.02, although little is known about the mutations involved. Recently, an extensive beta-thalassemia deletion was reported in several unrelated individuals of Filipino descent. The deletion begins approximately 4 kb upstream of the beta-globin g...

journal_title：Human genetics

authors： Waye JS,Eng B,Hunt JA,Chui DH

更新日期：1994-11-01 00:00:00

abstract：:The possible influence of the fragile X mutation at Xq27 on the expression of the neighbouring gene (at Xq26) for hypoxanthine phosphoribosyl transferase (HPRT) was studied by determination of the levels of HPRT-RNA and HPRT enzyme activity in fibroblast cell cultures from 7 fragile X patients. These levels were lower...

journal_title：Human genetics

authors： Steen AM,Marcus S,Sahlén S,Nielsen KB,Lambert B

更新日期：1991-08-01 00:00:00

abstract：:The data of the chromosome abnormalities in 15 colorectal tumors are presented. Rearrangements of the short arm of chromosome 17, leading to deletions of this arm or its part were noted in 12 tumors; in 2 other cases, one of the homologs of pair 17 was lost. The losses of at least one homolog of other chromosomal pair...

journal_title：Human genetics

authors： Konstantinova LN,Fleischman EW,Knisch VI,Perevozchikov AG,Kopnin BP

更新日期：1991-03-01 00:00:00

abstract：:A functionally inactive plasminogen (PLG) variant designated as PLG M5 is polymorphic in the Japanese population and has a feature common to PLG with type-I mutation that has a codon 601 missense mutation in exon 15 (GCT for Ala-->ACT for Thr). This study was conducted to clarify whether the type-I mutation of PLG is ...

journal_title：Human genetics

authors： Kikuchi S,Yamanouchi Y,Li L,Kobayashi K,Ijima H,Miyazaki R,Tsuchiya S,Hamaguchi H

更新日期：1992-09-01 00:00:00

abstract：:Restriction endonucleases have been recently proved to be active on fixed chromosomes, thus they are useful in chromatin structure studies. Within this class of enzymes, Alu I is able to detect the presence and localization of highly repetitive DNA sequences in human and in other mammalian and dipteran species. In thi...

journal_title：Human genetics

authors： De Stefano GF,Romano E,Ferrucci L

更新日期：1986-03-01 00:00:00

abstract：:Dysregulation of the one-carbon metabolic pathway, which controls nucleotide synthesis and DNA methylation, may promote lymphomagenesis. We evaluated the association between polymorphisms in one-carbon metabolism genes and risk of non-Hodgkin lymphoma (NHL) in a population-based case-control study in Australia. Cases ...

journal_title：Human genetics

authors： Lee KM,Lan Q,Kricker A,Purdue MP,Grulich AE,Vajdic CM,Turner J,Whitby D,Kang D,Chanock S,Rothman N,Armstrong BK

更新日期：2007-12-01 00:00:00

abstract：:It has been known for some 40 years that lactase production persists into adult life in some people but not in others. However, the mechanism and evolutionary significance of this variation have proved more elusive, and continue to excite the interest of investigators from different disciplines. This genetically deter...

journal_title：Human genetics

authors： Ingram CJ,Mulcare CA,Itan Y,Thomas MG,Swallow DM

更新日期：2009-01-01 00:00:00

abstract：:Hereditary hemochromatosis (HFE) is an inherited disorder whose gene lies in the proximity of the histocompatibility antigen (HLA) class I region, on 6p21.3. Despite efforts in refining the HFE region, a number of informative DNA markers, linked to the disease locus and amenable to use in an assay based on the polymer...

journal_title：Human genetics

authors： Totaro A,Grifa A,Roetto A,Lunardi C,D'Agruma L,Sbaiz L,Zelante L,De Sandre G,Camaschella C,Gasparini P

更新日期：1995-04-01 00:00:00

abstract：:We describe a genetic polymorphism of cytosol polypeptide with mol. wt. of 38,000 detected in phytohemagglutinin (PHA)-stimulated peripheral blood lymphocytes by two-dimensional gel electrophoresis. Three different electrophoretic phenotypes (type 1-1, 2-1, 2-2) of the polypeptide have been identified in a Japanese po...

journal_title：Human genetics

authors： Kondo I,Yamamoto T,Yamakawa K,Shibasaki M,Hamaguchi H

更新日期：1985-01-01 00:00:00

abstract：:In this preliminary study, non-invasive infrared thermography has been used to visualize individual sweat pores and whole body skin temperature patterns in subjects with X-linked hypohidrotic ectodermal dysplasia (XHED) and normal controls. The findings in eight obligate heterozygotes and four affected males were comp...

journal_title：Human genetics

authors： Clark RP,Goff MR,MacDermot KD

更新日期：1990-11-01 00:00:00

abstract：:We have used Y-specific and Y-derived DNA probes for in situ hybridization and Southern blotting analysis to characterize a Y;15 translocation showing normal Mendelian inheritance in a family. Cytogenetically there appeared to be an unbalanced translocation of Yqh to 15p; this translocation may be considered as a prot...

journal_title：Human genetics

authors： Alitalo T,Tiihonen J,Hakola P,de la Chapelle A

更新日期：1988-05-01 00:00:00

abstract：:Two cases of primary ring chromosome 2 and one case of a ring secondary to a paternal 2/6 translocation are described and compared with a fourth case of ring 2 from the literature. The breakpoints in two cases are identical and the same as the breakpoint on chromosome 2 in the composite 2/6 ring. The three primary rin...

journal_title：Human genetics

authors： Maraschio P,Danesino C,Garau A,Saputo V,Vigi V,Volpato S

更新日期：1979-04-27 00:00:00

abstract：:A fragile site on chromosome 12, at 12q24.13, was found in the lymphocytes of two members of a family during the study for detection of a fragile X chromosome. The site was found to be heritable and folate-sensitive, and it fulfills all four criteria for a fragile site. It thus can now be confirmed as the heritable fr...

journal_title：Human genetics

authors： Amarose AP,Huttenlocher PR,Sprudzs RM,Laitsch TJ,Pettenati MJ

更新日期：1987-01-01 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 homozygous gene deletion of the glutathione S-transferase M1 (GSTM1) locus of genomic DNA from blood spots was studied by the polymerase chain reaction in a group of French heavy smokers (n = 361), which included patients with severe chronic bronchitis (SCB; n = 87), moderate chronic bronchitis (MCB: n = 102) and ha...

journal_title：Human genetics

authors： Baranova H,Perriot J,Albuisson E,Ivaschenko T,Baranov VS,Hemery B,Mouraire P,Riol N,Malet P

更新日期：1997-06-01 00:00:00

abstract：:Several single-gene disorders with clinical and radiological characteristics similar to those observed in multiple sclerosis (MS) patients have been described. To evaluate whether this phenotypic overlap can be ascribed to a common genetic etiology, 28 genes known to present pathogenic mutations for 24 of these disord...

journal_title：Human genetics

authors： Traboulsee AL,Sadovnick AD,Encarnacion M,Bernales CQ,Yee IM,Criscuoli MG,Vilariño-Güell C

更新日期：2017-06-01 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：:DNA sequence analysis and electrophoresis in denaturing gel revealed that a 60 base pair insertion which had been previously postulated on the basis of native polyacrylamide gel electrophoresis of mitochondrial DNA from Japanese (Horai and Matsunaga 1986) did not exist at all. Unusual behavior of certain restriction f...

journal_title：Human genetics

authors： Horai S,Inoue T,Matsunaga E

更新日期：1987-01-01 00:00:00

abstract：:This paper summarizes previous chromosomal studies in patients with the Cornelia de Lange syndrome showing abnormal karyotypes. We report on 45 cases of the Cornelia de Lange syndrome clinically examined by one of us (B.B.) and chromosomally studied using several different methods. Two abnormal karyotypes were found: ...

journal_title：Human genetics

authors： Beck B,Mikkelsen M

更新日期：1981-01-01 00:00:00

abstract：:Two reciprocal balanced translocations involving chromosomes 2, 9, 12, and 18 were found in the karyotype of a woman with a child showing several congenital malformations at birth. Prenatal cytogenetic diagnosis, performed when a second pregnancy occurred, showed a normal chromosome constitution in the foetus. ...

journal_title：Human genetics

authors： Simoni G,Montali E,Rossella F,Dalprà L,Lo Curto F

更新日期：1979-01-25 00:00:00

abstract：:We have described a novel human globin gene mutation that produced in a Japanese family the beta-thalassemia phenotype through a post-translational mechanism. Substitution of proline for leucine at position 110 in the G-helix of the beta-globin chain greatly reduced the molecular stability of the beta-globin subunit, ...

journal_title：Human genetics

authors： Naritomi Y,Naito Y,Nakashima H,Yokota E,Imamura T

更新日期：1988-09-01 00:00:00

abstract：:Peripheral blood sister chromatid exchange (SCE) rates in chronic cigarette smokers and in subjects with cancer do not differ from those in healthy nonsmokers. SCE patterns were normal in 69 chronic cigarette smokers, including 62 patients with untreated lung cancer. In three chronic smokers with lung cancer, high SCE...

journal_title：Human genetics

authors： Hollander DH,Tockman MS,Liang YW,Borgaonkar DS,Frost JK

更新日期：1978-10-31 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is a rare oligogenic disorder exhibiting both clinical and genetic heterogeneity. Although the BBS phenotype is variable both between and within families, the syndrome is characterized by the hallmarks of developmental and learning difficulties, post-axial polydactylia, obesity, hypogenital...

journal_title：Human genetics

authors： Eichers ER,Abd-El-Barr MM,Paylor R,Lewis RA,Bi W,Lin X,Meehan TP,Stockton DW,Wu SM,Lindsay E,Justice MJ,Beales PL,Katsanis N,Lupski JR

更新日期：2006-09-01 00:00:00

abstract：:Air pollution is recognized as causal factor for cardiovascular disease (CVD) and is associated with multiple CVD risk factors. Substantial research effort has been invested in understanding the linkages between genetic variation and CVD risk, resulting in over 50 CVD-associated genetic loci. More recently, gene-air p...

journal_title：Human genetics

authors： Ward-Caviness CK

更新日期：2019-06-01 00:00:00