Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia.

abstract：:A high prevalence of the lysosomal storage disease aspartylglycosaminuria was found in a study of four birth cohorts of 12882 children in eastern Finland. Using school achievement tests and registers of mentally retarded individuals, 178 mentally retarded children were identified. Randomized urine samples from 151 of ...

journal_title：Human genetics

authors： Mononen T,Mononen I,Matilainen R,Airaksinen E

更新日期：1991-07-01 00:00:00

abstract：:Alzheimer disease (AD) is a devastating neurodegenerative disease leading to global dementia. The familial form (FAD) has been linked to markers on chromosome 21 in some families, most tightly to the loci D21S16 and D21S13 located close to the centromere of the long arm. In other families the FAD mutation has been exc...

journal_title：Human genetics

authors： Pulst SM,Fain P,Cohn V,Nee LE,Polinsky RJ,Korenberg JR

更新日期：1991-06-01 00:00:00

abstract：:New germline mutations in the human retinoblastoma gene are known to arise preferentially on paternally derived chromosomes, but the magnitude of that bias has not been measured. We evaluated 49 cases with a new germline mutation and found that in 40 cases (82%) the mutation arose on the paternally derived allele. We ...

journal_title：Human genetics

authors： Dryja TP,Morrow JF,Rapaport JM

更新日期：1997-09-01 00:00:00

abstract：:The pachytene configurations formed in the ovary of a mosaic 18p-;iso 18q human foetus (22 weeks gestation) are analysed using a surface spreading technique. Three features of interest are the apparent meiotic delay of oocyte development, oocyte degeneration, and the triple pairing which occurs in one cell line when t...

journal_title：Human genetics

authors： Speed RM

更新日期：1986-03-01 00:00:00

abstract：:Reverse transcription-polymerase chain reaction (RT-PCR)-based analyses of the adenomatous polyposis coli (APC) gene encompassing exons 1-15 revealed a complex pattern of products that were due to alternative splicing of exons 9, 10A and 14. The multiplicity of polypeptide chains obtained from T7-promoter-directed in ...

journal_title：Human genetics

authors： Bala S,Kraus C,Wijnen J,Meera Khan P,Ballhausen WG

更新日期：1996-11-01 00:00:00

abstract：:This report concerns two new mutations in the sterol 27-hydroxylase gene in two patients with cerebrotendinous xanthomatosis (CTX). In a Surinam-Creole patient (patient A), a G deletion on position cDNA 546/547 in exon 3 led to a frameshift and the introduction of a premature termination codon. In a Dutch patient (pat...

journal_title：Human genetics

authors： Verrips A,Steenbergen-Spanjers GC,Luyten JA,van den Heuvel LP,Keyser A,Gabreëls FJ,Wevers RA

更新日期：1996-12-01 00:00:00

abstract：:Scapuloperoneal spinal muscular atrophy (SPSMA) is a neuromuscular disorder characterized by weakness in the distribution of shoulder girdle and peroneal muscles. We have previously described a large New England kindred with autosomal dominant SPSMA and have subsequently linked this family trait to 12q24.1-q24.31. In ...

journal_title：Human genetics

authors： Isozumi K,DeLong R,Kaplan J,Hung WY,Siddique T

更新日期：1997-06-01 00:00:00

abstract：:Cultured human fibroblasts and amniotic fluid cells (AF cells) were examined for the presence of steroid hormone receptors. In both cell types, the androgen (DHT) or glucocorticoid (dexamethasone) receptor was detected, but not the estrogen receptor. Binding parameters in fibroblasts were: for androgen: KD = 3.7 X 10(...

journal_title：Human genetics

authors： Bauknecht T

更新日期：1977-12-23 00:00:00

abstract：:We report a Mexican family in which two sibs were identified as "classic" XX males without genital ambiguities. Molecular studies revealed that both patients were negative for several Y sequences, including SRY. A review of familial cases disclosed that this is the first family where a complete male phenotype was obse...

journal_title：Human genetics

authors： Zenteno JC,López M,Vera C,Méndez JP,Kofman-Alfaro S

更新日期：1997-10-01 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：: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：:Three patients with 45,X/46,XYnf mosaicism were investigated by Southern hybridization using both X- and Y-specific DNA probes. Our patients seem to be hemizygous for the X chromosomal loci tested. Single-copy and low-copy repeated Y chromosomal sequences assigned to the short arm, centromere, and euchromatin of the l...

journal_title：Human genetics

authors： Gänshirt-Ahlert D,Pawlowitzki IH,Gal A

更新日期：1987-06-01 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：:Five live-born infants with Patau syndrome were studied for the nondisjunctional origin of the extra chromosome. Transmission modes of chromosomes 13 from parents to a child were determined using both QFQ- and RFA-heteromorphisms as markers, and the origin was ascertained in all of the patients. The extra chromosome h...

journal_title：Human genetics

authors： Ishikiriyama S,Niikawa N

更新日期：1984-01-01 00:00:00

abstract：:We have identified a Tsp509I polymorphism in the 3' UTR of the human tyrosinase related protein-1 gene (TYRP). TYRP is one of several genes involved in melanin pigment production. ...

journal_title：Human genetics

authors： Wildenberg SC,King RA,Oetting WS

更新日期：1995-02-01 00:00:00

abstract：:The Wiskott-Aldrich syndrome protein (WASP) gene was found to be mutated in patients presenting with WAS and in patients showing X-linked thrombocytopenia. Mutation analysis in 19 families of German, Swiss and Turkish descent by single-strand conformation polymorphism and sequencing resulted in the detection of seven ...

journal_title：Human genetics

authors： Schindelhauer D,Weiss M,Hellebrand H,Golla A,Hergersberg M,Seger R,Belohradsky BH,Meindl A

更新日期：1996-07-01 00:00:00

abstract：:A new mutant alpha-1-antichymotrypsin (variant ACT) was found by polymerase chain reaction single strand conformation polymorphism and direct sequencing. In this variant ACT, two bases (AA) were deleted from codon 391. This resulted in a different amino acid sequence downstream of the deletion point, elongating the pe...

journal_title：Human genetics

authors： Tsuda M,Sei Y,Matsumoto M,Kamiguchi H,Yamamoto M,Shinohara Y,Igarashi T,Yamamura M

更新日期：1992-12-01 00:00:00

abstract：:An increased incidence of cystic fibrosis (CF) has been reported in some populations of Native Americans of the Southwest such as the Pueblo, which is a genetic isolate. As the most common mutation found in Caucasians (delta F508) was absent and only one chromosome carried the G542X mutation, we decided to analyze the...

journal_title：Human genetics

authors： Mercier B,Raguénès O,Estivill X,Morral N,Kaplan GC,McClure M,Grebe TA,Kessler D,Pignatti PF,Marigo C

更新日期：1994-12-01 00:00:00

abstract：:Postprandial triglyceridemia is an emerging risk factor for cardiovascular disease. However, most of the genes that influence postprandial triglyceridemia are not known. We evaluated whether a common nonsynonymous SNP rs1260326/P446L in the glucokinase regulatory protein (GCKR) gene influenced variation in the postpra...

journal_title：Human genetics

authors： Shen H,Pollin TI,Damcott CM,McLenithan JC,Mitchell BD,Shuldiner AR

更新日期：2009-10-01 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：:We report the spectrum of mutations and associated modified haplotypes in patients with phenylketonuria living in Germany. A total of 546 independent alleles was investigated, including 411 of German and 65 of Turkish descent. Mutations were identified for 535 PKU alleles (98%) and there were 91 different mutations. T...

journal_title：Human genetics

authors： Zschocke J,Hoffmann GF

更新日期：1999-05-01 00:00:00

abstract：:A unique two allele polymorphism for both HpaII and SmaI is described in the second intron of the human atrial natriuretic peptide gene. It should be a useful marker of this candidate gene in familial susceptibility to hypertension. ...

journal_title：Human genetics

authors： Ramasawmy R,Kotea N,Lu C,Sayada C,Baligadoo S,Krishnamoorthy R

更新日期：1993-06-01 00:00:00

abstract：:A total of 362 males from various regions of Papua New Guinea were screened for red cell glucose-6-phosphate dehydrogenase (G6PD) activity. Twenty-six G6PD deficient individuals were identified. Biochemical characterization of G6PD purified from these subjects has revealed 13 new variants and several copies of previou...

journal_title：Human genetics

authors： Chockkalingam K,Board PG,Nurse GT

更新日期：1982-01-01 00:00:00

abstract：:The geographical distribution of 49 mtDNA sequences from 22 localities in Southern Tuscany, Italy, was studied by molecular analysis of variance, by a new spatial autocorrelation statistic specifically designed for sequence data and by reconstructing genealogies of haplotypes. All these methods indicated a high homoge...

journal_title：Human genetics

authors： Bertorelle G,Calafell F,Francalacci P,Bertranpetit J,Barbujani G

更新日期：1996-08-01 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：: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：:Polymorphism of the human c-Ha-ras-1 gene has been analysed in DNA from 168 individuals using the enzymes MspI and HpaII. In all, 35 bladder cancer patients, 28 melanoma patients, 22 Wilms' tumour patients, 24 first-degree relatives of Wilms' tumour or melanoma patients and 59 unaffected controls were studied. A total...

journal_title：Human genetics

authors： Hayward NK,Keegan R,Nancarrow DJ,Little MH,Smith PJ,Gardiner RA,Seymour GJ,Kidson C,Lavin MF

更新日期：1988-02-01 00:00:00

abstract：:Whole genome sequencing (WGS) was performed to identify the variants responsible for inherited retinal degeneration (IRD) in a Caucasian family. Segregation analysis of selected rare variants with pathogenic potential identified a set of compound heterozygous changes p.Arg266*:c.796C>T and p.Ala568Thr:c.1702G>A in the...

journal_title：Human genetics

authors： Chekuri A,Guru AA,Biswas P,Branham K,Borooah S,Soto-Hermida A,Hicks M,Khan NW,Matsui H,Alapati A,Raghavendra PB,Roosing S,Sarangapani S,Mathavan S,Telenti A,Heckenlively JR,Riazuddin SA,Frazer KA,Sieving PA,Ayyagari

更新日期：2018-07-01 00:00:00

abstract：:A cDNA probe of the human COL5A1 gene detects a frequent biallelic PstI polymorphism. Allele A has a frequency of 54% whereas that of allele B is 46%. This restriction fragment length polymorphism provides a useful marker for linkage analysis in 9q34.3. ...

journal_title：Human genetics

authors： Cappa F,Caridi G,Gimelli G,Ghiggeri GM

更新日期：1995-05-01 00:00:00

abstract：:We conducted an association study to identify risk variants for familial prostate cancer within the HPCX locus at Xq27 among Americans of Northern European descent. We investigated a total of 507 familial prostate cancer probands and 507 age-matched controls without a personal or family history of prostate cancer. The...

journal_title：Human genetics

authors： Yaspan BL,McReynolds KM,Elmore JB,Breyer JP,Bradley KM,Smith JR

更新日期：2008-05-01 00:00:00