Alternative splicing in PAX2 generates a new reading frame and an extended conserved coding region at the carboxy terminus.

abstract：:HLA markers (A, B, C, DR loci) were determined for the members of 52 unrelated families with at least one child suffering from congenital adrenal hyperplasia due to 21 hydroxylase deficiency, permitting genotyping. The gene frequencies of the 52 index cases were compared with those obtained from the patients' normal h...

journal_title：Human genetics

authors： Couillin P,Kottler-Missonnier ML,Grisard MC,Hors J,Feingold J,Boué J,Boué A

更新日期：1980-01-01 00:00:00

abstract：:A method is described for large scale routine phenotyping of haptoglobin (Hp) which allows complete subtyping without prior purification of the Hp molecule. The procedure includes polyacrylamide gel isoelectric focusing of reduced, neuraminidase treated serum or plasma samples, and nitrocellulose blots developed with ...

journal_title：Human genetics

authors： Teige B,Olaisen B,Pedersen L

更新日期：1985-01-01 00:00:00

abstract：:African Americans have increased susceptibility to non-diabetic (non-DM) forms of end-stage renal disease (ESRD) and extensive evidence supports a genetic contribution. A genome-wide association study (GWAS) using pooled DNA was performed in 1,000 African Americans to detect associated genes. DNA from 500 non-DM ESRD ...

journal_title：Human genetics

authors： Bostrom MA,Lu L,Chou J,Hicks PJ,Xu J,Langefeld CD,Bowden DW,Freedman BI

更新日期：2010-08-01 00:00:00

abstract：:In ataxia-telangiectasia (A-T) patients, mutations in a single gene, ATM, result in an autosomal recessive syndrome that embraces a variety of clinical features and manifests extreme radiosensitivity and a strong pre-disposition to malignancy. Heterozygotes for the ATM gene have no clinical expression of A-T but may b...

journal_title：Human genetics

authors： Tchirkov A,Bay JO,Pernin D,Bignon YJ,Rio P,Grancho M,Kwiatkowski F,Giollant M,Malet P,Verrelle P

更新日期：1997-12-01 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：: ...

journal_title：Human genetics

authors： Antoniou A,Anton-Culver H,Borowsky A,Broeders M,Brooks J,Chiarelli A,Chiquette J,Cuzick J,Delaloge S,Devilee P,Dorval M,Easton D,Eisen A,Eklund M,Eloy L,Esserman L,Garcia-Closas M,Goldgar D,Hall P,Knoppers BM,Kraf

更新日期：2019-03-01 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：:There have been a number of genome-wide linkage studies for adult height in recent years. These studies have yielded few well-replicated loci, and none have been further confirmed by the identification of associated gene variants. The inconsistent results may be attributable to the fact that few studies have combined ...

journal_title：Human genetics

authors： Ellis JA,Scurrah KJ,Duncan AE,Lamantia A,Byrnes GB,Harrap SB

更新日期：2007-04-01 00:00:00

abstract：:A study of 491 patients with femur-fibula-ulna (FFU) complex is presented. The term FFU complex has been proposed for cases in which the femur, fibula and/or ulna show defects, which tend to be associated. These cases are usually sporadic. Some rare anomalies of the arms which are present are particularly frequent in ...

journal_title：Human genetics

authors： Lenz W,Zygulska M,Horst J

更新日期：1993-05-01 00:00:00

abstract：:We recently observed a significantly increased risk for lung cancer in carriers of p53 germline mutations. Because cigarette smoking is known to play an important role in increasing the risk for lung cancer in the general population, we wanted to determine the role of cigarette smoking in lung cancer risk in people wi...

journal_title：Human genetics

authors： Hwang SJ,Cheng LS,Lozano G,Amos CI,Gu X,Strong LC

更新日期：2003-08-01 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：:Holoprosencephaly (HPE) is a common forebrain malformation associated with mental retardation and craniofacial anomalies. Multiple lines of evidence indicate that loss of ventral neurons is associated with HPE. The condition is etiologically heterogeneous, and abnormalities in any of several genes can cause human HPE....

journal_title：Human genetics

authors： Schell-Apacik C,Rivero M,Knepper JL,Roessler E,Muenke M,Ming JE

更新日期：2003-07-01 00:00:00

abstract：:Mutual correction of co-cultivated fibroblasts from patients with Hunter's and Hurler's syndrome could be inhibited by either fructose 1-phosphate or mannose 6-phosphate. In the presence of fructose 1-phosphate a 50% mixture of fibroblasts from a patient with Hunter's syndrome and a normal homozygous individual showed...

journal_title：Human genetics

authors： Tønnesen T,Lykkelund C,Güttler F

更新日期：1982-01-01 00:00:00

abstract：:The human St2 locus has been assigned to chromosome 2, using a human ST2 cDNA clone, by a human/rodent somatic cel hybrid mapping panel. The St2 locus has also been mapped to chromosome 2q11.2, using a human ST2 genomic DNA clone, by in situ hybridization. The locus is very tightly linked to the Il-1r1 locus. Together...

journal_title：Human genetics

authors： Tominaga S,Inazawa J,Tsuji S

更新日期：1996-05-01 00:00:00

abstract：:A method based on a combination of cell culture and pharmacokinetic data is explored as a way of estimating the possible genetic risk to man from a mutagenic chemical. 8-methoxypsoralen, which is given to psoriasis patients as part of a photochemotherapy regime, is used, since it represents a 'real-life' situation and...

journal_title：Human genetics

authors： Bridges BA

更新日期：1979-05-23 00:00:00

abstract：:Deletion and truncation mutations in the X-linked gene CASK are associated with severe intellectual disability (ID), microcephaly and pontine and cerebellar hypoplasia in girls (MICPCH). The molecular origin of CASK-linked MICPCH is presumed to be due to disruption of the CASK-Tbr-1 interaction. This hypothesis, howev...

journal_title：Human genetics

authors： LaConte LEW,Chavan V,Elias AF,Hudson C,Schwanke C,Styren K,Shoof J,Kok F,Srivastava S,Mukherjee K

更新日期：2018-03-01 00:00:00

abstract：:A Turkish family is described with two members suffering from familial amyloidotic polyneuropathy. Their transthyretin genes were examined using the polymerase chain reaction, and both patients possessed the met30 mutation in both of their transthyretin genes. In this family, only individuals who are homozygous for th...

journal_title：Human genetics

authors： Skare J,Yazici H,Erken E,Dede H,Cohen A,Milunsky A,Skinner M

更新日期：1990-11-01 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：:Eight polymorphic restriction enzyme sites at the phenylalanine hydroxylase (PAH) locus were analyzed from the parental chromosomes in 33 Danish nuclear families with at least one phenylketonuric (PKU) child. Determination of haplotypes of 66 normal chromosomes and 66 chromosomes bearing mutant allele(s) demonstrated ...

journal_title：Human genetics

authors： Chakraborty R,Lidsky AS,Daiger SP,Güttler F,Sullivan S,Dilella AG,Woo SL

更新日期：1987-05-01 00:00:00

abstract：:Family-based candidate gene and genome-wide association studies are a logical progression from linkage studies for the identification of gene and polymorphisms underlying complex traits. An efficient way to analyse phenotypic and genotypic data is to model linkage and association simultaneously. An important result fr...

journal_title：Human genetics

authors： Gordon S,Visscher PM

更新日期：2007-03-01 00:00:00

abstract：:In the present paper an intercalary deletion of band 8q23 is reported in another patient with Langer-Giedion syndrome. These data confirm that the deletion in 8q responsible for this malformation syndrome is located at band 8q23. ...

journal_title：Human genetics

authors： Fryns JP,Heremans G,Marien J,Van den Berghe H

更新日期：1983-01-01 00:00:00

abstract：:A protocol is reported which allows the efficient induction of bromodeoxyuridine (BrdU)-induced R-type replication patterns in fibroblast cultures prepared to demonstrate the fragile site fra(X)(q27). The technique includes partial synchronization of the culture by fluorodeoxyuridine (FdU) blocking at the G1/S transit...

journal_title：Human genetics

authors： Barbi G,Steinbach P,Wiedenmann A,Vogel W

更新日期：1983-01-01 00:00:00

abstract：:Galactosemia is an inborn error of galactose metabolism secondary to deficiency of galactose-1-phosphate uridyl transferase (GALT). GALT is a polymorphic enzyme and Duarte (D) is the most common enzyme variant. This variant is characterized by faster electrophoretic mobility and reduced activity. Duarte/galactosemia c...

journal_title：Human genetics

authors： Lin HC,Kirby LT,Ng WG,Reichardt JK

更新日期：1994-02-01 00:00:00

abstract：:Prior to the isolation of mammalian DNA repair genes and identification of their gene products, the comparison between the bacterial SOS response and various similar reactions in mammalian cells remains rather speculative. The increasing number of observed phenomena including enhanced DNA repair, virus induction, indu...

journal_title：Human genetics

authors： Herrlich P,Mallick U,Ponta H,Rahmsdorf HJ

更新日期：1984-01-01 00:00:00

abstract：:The neurofibromatosis type 1 (NF1) gene located at 17q 11.2 contains 60 exons and spans 350 kb of genomic DNA. Mutation analysis has been hampered by the large size of the gene, the high rate of new mutations, a lack of mutational clustering and the presence of numerous homologous loci. Mutation detection methods base...

journal_title：Human genetics

authors： Osborn MJ,Upadhyaya M

更新日期：1999-10-01 00:00:00

abstract：:Haptoglobin phenotypes of 1121 unrelated Chinese blood donors in Beijing were determined. The gene frequency of Hp1 was 0.270. A rare variant, which we identified as Hp1S-J, was found. Two hundred and two samples of this population were submitted to haptoglobin subtyping, and no Hp1F allele was found among them. ...

journal_title：Human genetics

authors： Liang CC,Qi ZB,Ying QL,Wang LF

更新日期：1983-01-01 00:00:00

abstract：:Pericentromeric regions of human chromosomes are preferential sites for the integration of duplicated DNA, or "duplicons", which often contain gene fragments. Although pericentromeric regions appear to be genomic junkyards, they could also be the birthplace of new genes with novel functions. We have characterized a ch...

journal_title：Human genetics

authors： Bridgland L,Footz TK,Kardel MD,Riazi MA,McDermid HE

更新日期：2003-01-01 00:00:00

abstract：:Chromosomal analysis from aborted tissue has become an important diagnostic aid. However, the necessary cultures are frequently unsuccessful due to the condition of the aborted tissue. Polyploidy, in particular triploidy, in the conceptus is a common cause of early pregnancy loss and unlike aneuploidy does not appear ...

journal_title：Human genetics

authors： Riekki K,Baillie JE,Nair KK,Dill FJ,Poland BJ,Baillie DL

更新日期：1977-07-26 00:00:00

abstract：:Nitric oxide (NO) mediates host resistance to severe malaria and other infectious diseases. NO production and mononuclear cell expression of the NO producing enzyme-inducible nitric oxide synthase (NOS2) have been associated with protection from severe falciparum malaria. The purpose of this study was to identify sing...

journal_title：Human genetics

authors： Levesque MC,Hobbs MR,O'Loughlin CW,Chancellor JA,Chen Y,Tkachuk AN,Booth J,Patch KB,Allgood S,Pole AR,Fernandez CA,Mwaikambo ED,Mutabingwa TK,Fried M,Sorensen B,Duffy PE,Granger DL,Anstey NM,Weinberg JB

更新日期：2010-02-01 00:00:00

abstract：:A polymorphism was identified in 3' untranslated region of the phenylalanine hydroxylase gene using the newly described mutation detection method, enzyme mismatch cleavage. This polymorphism, 1546 G-->A, was linked to three mutations on several haplotype backgrounds. A group of haplotypes was identified as evolving fr...

journal_title：Human genetics

authors： Ramus SJ,Cotton RG

更新日期：1995-12-01 00:00:00