One-carbon metabolism gene polymorphisms and risk of non-Hodgkin lymphoma in Australia.

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：:In the present study, the possible role of genetic polymorphism of three drug-metabolizing enzymes, debrisoquine/sparteine hydroxylase (CYP2D6), glutathione S-transferase mu (GSTM1), and N-acetyltransferase (NAT2), as a putative genetic component of human longevity, was explored. A total of 817 DNA samples from a cent...

journal_title：Human genetics

authors： Muiras ML,Verasdonck P,Cottet F,Schächter F

更新日期：1998-05-01 00:00:00

abstract：:A myeloblastin/proteinase-3 (MBN/PR-3) cDNA probe detects two bi-allelic (BglII, PvuII) DNA polymorphisms. These restriction fragment length polymorphisms provide new genetic markers on chromosome 19. ...

journal_title：Human genetics

authors： Schwaller J,Chen T,Fey MF,Tobler A

更新日期：1993-11-01 00:00:00

abstract：:In a systematic screening for mutations in the gene encoding the cystic fibrosis transmembrane regulator among Danish cystic fibrosis (CF) patients, we identified a mutation in exon 3 (394delTT); this mutation was found to be relatively common in Denmark. We therefore screened for 394delTT in Sweden and Norway, where ...

journal_title：Human genetics

authors： Schwartz M,Anvret M,Claustres M,Eiken HG,Eiklid K,Schaedel C,Stolpe L,Tranebjaerg L

更新日期：1994-02-01 00:00:00

abstract：:A cystinuria disease gene (rBAT) has recently been identified, but evidence strongly suggests that only Type-I cystinuria is due to mutations in this gene. Sixteen point mutations and a large deletion causing the disease have so far been described in the rBAT gene sequence. To identify new mutated alleles, genomic DNA...

journal_title：Human genetics

authors： Bisceglia L,Calonge MJ,Dello Strologo L,Rizzoni G,de Sanctis L,Gallucci M,Beccia E,Testar X,Zorzano A,Estivill X,Zelante L,Palacin M,Gasparini P,Nunes V

更新日期：1996-10-01 00:00:00

abstract：:We report the molecular characterization of a ring X chromosome that was transmitted from a mother to a male who has short stature and minor dysmorphic features. This represents only the second reported ring X chromosome in a male. The ring is derived from breakage within the Xp pseudoautosomal region (PAR) and just p...

journal_title：Human genetics

authors： Ellison JW,Tekin M,Sikes KS,Yankowitz J,Shapiro L,Rappold GA,Neely KE

更新日期：2002-04-01 00:00:00

abstract：:The HPS-1 gene is the first gene found to be responsible for the autosomal recessive disorder Hermansky-Pudlak syndrome (HPS). HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency, and ceroid lipofuscinosis. The HPS-1 gene has been mapped to chromosome 10q23.1-23.3 and encodes a 79-kDa p...

journal_title：Human genetics

authors： Huizing M,Anikster Y,Gahl WA

更新日期：2000-03-01 00:00:00

abstract：:Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is a rare autosomal recessive disorder characterized by the inability to degrade heparan sulfate because of a deficiency of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). We performed mutation screening in a group of 20 patients, identyifing 28 mutat...

journal_title：Human genetics

authors： Tessitore A,Villani GR,Di Domenico C,Filocamo M,Gatti R,Di Natale P

更新日期：2000-12-01 00:00:00

abstract：:Although the occurrence of bladder cancer is common, the molecular events underlying the pathogenesis of this cancer remain ill-defined. A loss of heterozygosity (LOH) at specific chromosomal loci may predispose individuals to the development of bladder cancer but this has not been examined in detail. Furthermore, the...

journal_title：Human genetics

authors： Shipman R,Schraml P,Colombi M,Raefle G,Ludwig CU

更新日期：1993-06-01 00:00:00

abstract：:Ectodermal dysplasia syndromes are genetically heterogeneous group of disorders involving one or more of the classical ectodermal appendages (hair, nail, teeth, sweat glands) in association with anomalies of other organs or systems. In the present study a novel form of ectodermal dysplasia syndrome, ectodermal dysplas...

journal_title：Human genetics

authors： Tariq M,Khan MN,Ahmad W

更新日期：2009-05-01 00:00:00

abstract：:Forty cases of chronic myeloid leukemia (CML) were studied and subgroups of cases with similar chromosomal abnormalities in terminal stage were defined. Certain correlations were observed between the type of chromosomal changes, and clinical and morphologic manifestations of the disease: (1) It seems that, in cases wi...

journal_title：Human genetics

authors： Prigogina EL,Fleischman EW,Volkova MA,Frenkel MA

更新日期：1978-03-17 00:00:00

abstract：:Ehlers-Danlos syndrome (EDS) type I is a generalized connective tissue disorder, the major manifestations of which are soft, velvety hyperextensible skin and moderately severe joint hypermobility. The gene defect or defects causing EDS type I have not yet been defined, but previous observations suggested that the synd...

journal_title：Human genetics

authors： Sokolov BP,Prytkov AN,Tromp G,Knowlton RG,Prockop DJ

更新日期：1991-12-01 00:00:00

abstract：:Osteopetrosis is the result of mutations affecting osteoclast function. Careful analyses of osteopetrosis have provided instrumental information on bone remodeling, including the coupling of bone formation to bone resorption. Based on a range of novel genetic mutations and the resulting osteoclast phenotypes, we discu...

journal_title：Human genetics

authors： Segovia-Silvestre T,Neutzsky-Wulff AV,Sorensen MG,Christiansen C,Bollerslev J,Karsdal MA,Henriksen K

更新日期：2009-01-01 00:00:00

abstract：:The effect of the enzymes phospholipases C and D on Factor VIII were investigated. Phospholipase D was found to activate the partially purified intact Factor-VIII molecule maximally at a final concentration of 0.6 U/ml. Neither the dissociated small molecular weight component nor the high molecular weight component we...

journal_title：Human genetics

authors： Ananthakrishnan R,D'Souza S

更新日期：1978-01-19 00:00:00

abstract：:Mutations in the genes coding for connexin 26 (Cx26) and connexin 31 (Cx31) cause non-syndromic deafness. Here, we provide evidence that mutations at these two connexin genes can interact to cause hearing loss in digenic heterozygotes in humans. We have screened 108 GJB2 heterozygous Chinese patients for mutations in ...

journal_title：Human genetics

authors： Liu XZ,Yuan Y,Yan D,Ding EH,Ouyang XM,Fei Y,Tang W,Yuan H,Chang Q,Du LL,Zhang X,Wang G,Ahmad S,Kang DY,Lin X,Dai P

更新日期：2009-02-01 00:00:00

abstract：:Herlitz disease (H-JEB), the lethal form of junctional epidermolysis bullosa, is a rare genodermatosis presenting from birth with widespread erosions and blistering of skin and mucosae because of tissue cleavage within the epidermal basement membrane. Mutations in any of the three genes encoding the alpha3, beta3 and ...

journal_title：Human genetics

authors： Mühle C,Jiang QJ,Charlesworth A,Bruckner-Tuderman L,Meneguzzi G,Schneider H

更新日期：2005-01-01 00:00:00

abstract：:We have used the polymerase chain reaction (PCR) technique for the diagnosis of hydatidiform mole, a trophoblastic disease. For this, we targeted the hypervariable 3' flanking region of the APOB gene (APOB/VNTR) because of its high heterozygosity index (0.61) in the Japanese population. We examined seven clinical case...

journal_title：Human genetics

authors： Fukuyama R,Takata M,Kudoh J,Sakai K,Tamura S,Shimizu N

更新日期：1991-06-01 00:00:00

abstract：:The presence of a de novo supernumerary marker chromosome (SMC) poses problems in genetic counseling. The consequences of the additional chromosomal material may range from harmless to detrimental. As the composition of a SMC cannot be deciphered by traditional banding analysis, sophisticated methods are needed for th...

journal_title：Human genetics

authors： Langer S,Fauth C,Rocchi M,Murken J,Speicher MR

更新日期：2001-08-01 00:00:00

abstract：:Rubella virus causes a relatively benign disease in most cases, although infection during pregnancy can result in serious birth defects. An effective vaccine has been available since the early 1970s and outbreaks typically do not occur among highly vaccinated (≥2 doses) populations. Nevertheless, considerable inter-in...

journal_title：Human genetics

authors： Kennedy RB,Ovsyannikova IG,Haralambieva IH,Lambert ND,Pankratz VS,Poland GA

更新日期：2014-11-01 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：:Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY females with ovarian gonadal differentiation and typical clinical features of campomelic dysplasia could be tested for H-Y antigen and were found to ...

journal_title：Human genetics

authors： Bricarelli FD,Fraccaro M,Lindsten J,Müller U,Baggio P,Carbone LD,Hjerpe A,Lindgren F,Mayerová A,Ringertz H,Ritzén EM,Rovetta DC,Sicchero C,Wolf U

更新日期：1981-01-01 00:00:00

abstract：:Using in situ chromosomal hybridization we have mapped the gene for the T-cell receptor alpha-chain in three different non-malignant T-cell clones occurring in ataxia telangiectasia. The constant region was translocated in each of the three clones. The variable region remained in its original position in two cases and...

journal_title：Human genetics

authors： Stern MH,Zhang FR,Griscelli C,Thomas G,Aurias A

更新日期：1988-01-01 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：:A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a balanced heterozygote...

journal_title：Human genetics

authors： Dallapiccola B,Bollea G,Mazzilli C,Gandini E

更新日期：1976-07-07 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：:Common variable immunodeficiency (CVID, OMIM 240500) and selective immunoglobulin A deficiency (IgAD) are the most frequent primary immunodeficiencies in humans. Of the cases with CVID/IgAD, 20%-25% are familial, but the only previous claims of linkage or association are to the HLA region on chromosome 6p. We report t...

journal_title：Human genetics

authors： Braig DU,Schäffer AA,Glocker E,Salzer U,Warnatz K,Peter HH,Grimbacher B

更新日期：2003-04-01 00:00:00

abstract：:Three cases of partial trisomy for the distal segment of chromosome 13 are reported. Common clinical features included normal birth weight, postnatal asphyxia, convulsions, severe psychomotor retardation, normal growth, and a distinct pattern of dysmorphias consisting of trigonocephalic head with prominent metopic sut...

journal_title：Human genetics

authors： Schinzel A,Hayashi K,Schmid W

更新日期：1976-04-15 00:00:00

abstract：:Gene frequency data of ten protein and enzyme loci in seven populations of India were collected from the literature. The gene differentiation among seven populations relative to total population was only 0.6%, indicating that the genic variation between populations was small compared to that within them. Using 29 comm...

journal_title：Human genetics

authors： Roychoudhury AK

更新日期：1977-12-29 00:00:00

abstract：:Some missense changes are compatible with normal protein function while others compromise essential aspects of protein maturation, specific activity, or stability. For those missense changes that alter function in the intact organism, how likely is it for the mutated protein to retain appreciable residual activity? By...

journal_title：Human genetics

authors： Sommer SS,Bowie EJ,Ketterling RP,Bottema CD

更新日期：1992-05-01 00:00:00

abstract：:We have used the polymerase chain reaction to amplify two variable number of tandem repeats (VNTRs) within a region of repetitive DNA located in intron 40 of the von Willebrand factor (vWf) gene. Heterozygosity for VNTR I was observed in 30 out of 39 normal unrelated individuals tested (77%), and for VNTR II in 29 out...

journal_title：Human genetics

authors： Cumming AM,Armstrong JG,Pendry K,Burn AM,Wensley RT

更新日期：1992-05-01 00:00:00