Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism.

abstract：:The ERM proteins, ezrin, radixin, and moesin, act as linkers between the plasma membrane and actin cytoskeleton. They are involved in a variety of cellular functions, such as cell adhesion, migration, and the organization of cell surface structures, and are highly homologous, both in protein sequence and in functional...

journal_title：Human genetics

authors： Majander-Nordenswan P,Sainio M,Turunen O,Jääskeläinen J,Carpén O,Kere J,Vaheri A

更新日期：1998-12-01 00:00:00

abstract：:We describe a novel mutation in the delta globin gene of a compound heterozygote for delta o thalassemia and a deletion type G gamma + (A gamma delta beta) zero thalassemia. The delta was amplified using the polymerase chain reaction (PCR), and the amplified material was used in a direct sequencing experiment. The nuc...

journal_title：Human genetics

authors： Losekoot M,Fodde R,Giordano PC,Bernini LF

更新日期：1989-08-01 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：: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：: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：:The delta F508 mutation and cystic fibrosis (CF) haplotypes with the markers KM19, pMP6d-9 and J3.11 are described in 54 adult British CF patients. delta F508 was found on 70% of all CF chromosomes, on none of the normal chromosomes and on only 37.5% of pancreatic sufficient CF chromosomes. All patients with meconium ...

journal_title：Human genetics

authors： Santis G,Osborne L,Knight R,Ramsay M,Williamson R,Hodson M

更新日期：1990-09-01 00:00:00

abstract：:Ten restriction fragment length polymorphisms of the LDL receptor gene were used for haplotype analysis in 12 unrelated patients with homozygous familial hypercholesterolemia. These patients were drawn from the Black, Coloured, and White population groups and collectively represent 24 mutant alleles underlying the FH ...

journal_title：Human genetics

authors： Henderson HE,Kotze MJ,Berger GM

更新日期：1989-08-01 00:00:00

abstract：:The karyotypes of more than 60 species of Primates are studied and compared, with the use of almost all existing banding techniques. There is a very close analogy of chromosome banding between the Simians studied and man. The quantitative or qualitative variations detected all involve the heterochromatin. It is very l...

journal_title：Human genetics

authors： Dutrillaux B

更新日期：1979-05-10 00:00:00

abstract：:A G- to A-DNA sequence change in exon 26 of the human apolipoprotein B (apo B) gene leads to a glutamine substitution for arginine at codon 3611 of the mature apolipo-protein B100 and causes a loss of an MspI site. In 106 Finnish individuals, a complete correspondence exists between this MspI polymorphic site and the ...

journal_title：Human genetics

authors： Xu CF,Nanjee N,Tikkanen MJ,Huttunen JK,Pietinen P,Bütler R,Angelico F,Del Ben M,Mazzarella B,Antonio R

更新日期：1989-07-01 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：: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：:During the 8 year-period 1971-1978 inclusive, 268 newborn with Down's syndrome (DS) were ascertained in Wallonia (South Belgium). The chromosomes of all patients were analyzed. A standard trisomy 21 was observed in 259 cases (96.6%) and translocations in seven (2.6%). One mosaic (0.4%) and one case with a 47,XX,+21,5 ...

journal_title：Human genetics

authors： Koulischer L,Gillerot Y

更新日期：1980-01-01 00:00:00

abstract：:A hereditary disease with excess mortality such as haemophilia is maintained in the population by the occurrence of new cases, i.e. mutations. In haemophilia, mutations may arise in female or male ancestors of a 'new' patient. The ratio of the mutation frequencies in males over females determines the prior risk of car...

journal_title：Human genetics

authors： Rosendaal FR,Bröcker-Vriends AH,van Houwelingen JC,Smit C,Varekamp I,van Dijck H,Suurmeijer TP,Vandenbroucke JP,Briët E

更新日期：1990-12-01 00:00:00

abstract：:The frequencies of base-line and Mitomycin-C (MMC) induced sister chromatid exchanges (SCE) were surveyed in four inbred strains of mice. In contrast to the C57Bl/6J, CBA/J, and A/J strains where frequencies of SCE increased linearly with increasing dose of MMC, levels of SCE were significantly lower in AKR/J mice at ...

journal_title：Human genetics

authors： Kram D,Schneider EL

更新日期：1978-02-23 00:00:00

abstract：:Infertility affects 10% of reproductive-age women and is extremely heterogeneous in etiology. The genetic contribution to female infertility is incompletely understood, and involves chromosomal and single-gene defects. Our aim in this study is to decipher single-gene causes in infertile women in whom endocrinological,...

journal_title：Human genetics

authors： Maddirevula S,Awartani K,Coskun S,AlNaim LF,Ibrahim N,Abdulwahab F,Hashem M,Alhassan S,Alkuraya FS

更新日期：2020-05-01 00:00:00

abstract：:Seven nucleotide sequence polymorphisms were detected within exons of the low-density lipoprotein (LDL) receptor gene using single-strand conformation polymorphism (SSCP) analysis followed by direct sequence analysis on amplified DNA. Four nucleotide changes at nucleotide positions 1617, 1725, 2232, and 2635 were new ...

journal_title：Human genetics

authors： Yamakawa-Kobayashi K,Kobayashi T,Obara T,Hamaguchi H

更新日期：1993-08-01 00:00:00

abstract：:1108 tribal and 1062 non-tribal individuals from three districts of Andhra Pradesh were examined for serum albumin variants. A slow-moving variant, identical to Albumin Kashmir was found in a single Muslim individual. Another new slow-moving variant, faster than Albumin Kashmir found in a single individual of a Koya D...

journal_title：Human genetics

authors： Rao PR,Goud JD,Swamy BR

更新日期：1979-10-01 00:00:00

abstract：:We describe a comparative study of the behavior of nucleolar structures and their relationship with nucleolar chromosomes and synaptonemal complexes at first meiotic prophase of human oocytes in an attempt to elucidate the nature of this cellular organization and to learn more about maternal nondisjunction. The number...

journal_title：Human genetics

authors： García M,Dietrich A,Pujol R,Egozcue J

更新日期：1989-05-01 00:00:00

abstract：:Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in white populations. Significant regional differences in CF mutations among affected individuals have been reported. We have studied the geographic distribution of the relative frequencies of the three most common Dutch CF mutations, deltaF5...

journal_title：Human genetics

authors： Collée JM,de Vries HG,Scheffer H,Halley DJ,ten Kate LP

更新日期：1998-05-01 00:00:00

abstract：:Germline mutations of the adenomatous polyposis coli ( APC) gene cause familial adenomatous polyposis (FAP), an autosomal, dominantly inherited disease that predisposes patients to colorectal cancer. The APC gene is composed of 15 coding exons and encodes an open reading frame of 8.5 kb. The 3' 6.5 kb of the APCopen r...

journal_title：Human genetics

authors： Su LK,Kohlmann W,Ward PA,Lynch PM

更新日期：2002-07-01 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：: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：:Postnatal growth records of 13 patients with Wolf-Hirschhorn syndrome indicate that the syndrome is associated with continuing severe growth retardation and marked microcephaly. In spite of severe retardation, these patients (with one exception) survived beyond infancy. ...

journal_title：Human genetics

authors： Fujimoto A,Wilson MG

更新日期：1990-02-01 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 13-year-old Hungarian boy (B.J.Jr.) with congenital haemolytic anaemia (CHA) and hyperkinetic torsion dyskinesia was found to have severe triose-phosphate isomerase (TPI) deficiency. One of his two brothers (A.J.), a 23-year-old amateur wrestler, has CHA as well, but no neurological symptoms. Both have less than 10%...

journal_title：Human genetics

authors： Hollán S,Fujii H,Hirono A,Hirono K,Karro H,Miwa S,Harsányi V,Gyódi E,Inselt-Kovács M

更新日期：1993-11-01 00:00:00

abstract：:We have analysed the spread of X inactivation in an individual with an unbalanced 46,X,der(X)t(X;10)(q26.3;q23.3) karyotype. Despite being trisomic for the region 10q23.3-qter, both the proband and her aunt with the same karyotype presented only with secondary amenorrhoea and lacked any features normally associated wi...

journal_title：Human genetics

authors： Sharp A,Robinson DO,Jacobs P

更新日期：2001-09-01 00:00:00

abstract：:Esterase D was quantitatively measured in the red blood cells from three patients from three separate kindreds who had abnormalities of chromosome 13. The esterase D activity was proportional to the number of copies of the q14 region of chromosome 13 present. These findings confirm published data localizing the estera...

journal_title：Human genetics

authors： Dryja TP,Bruns GA,Gallie B,Petersen R,Green W,Rapaport JM,Albert DM,Gerald PS

更新日期：1983-01-01 00:00:00

abstract：:Chromosome preparations from four subjects, one normal 46,XY male and three patients with different rearrangements of chromosome 11: 46,XX,del(11)(p11.2----p15.1), 46,XY,inv(11)(p13q24.2), and 46,XY,rec(11)inv(11)(p13q24.2) pat, were utilized for in situ hybridization studies with a tritium-labeled cDNA probe containi...

journal_title：Human genetics

authors： Magenis RE,Donlon TA,Tomar DR

更新日期：1985-01-01 00:00:00

abstract：:Deficiency of liver arginase (AI) is characterized clinically by hyperargininemia, progressive mental impairment, growth retardation, spasticity, and periodic episodes of hyperammonemia. The rarest of the inborn errors of urea cycle enzymes, it has been considered the least life-threatening, by virtue of the typical a...

journal_title：Human genetics

authors： Grody WW,Kern RM,Klein D,Dodson AE,Wissman PB,Barsky SH,Cederbaum SD

更新日期：1993-03-01 00:00:00

abstract：:We have determined the frequency of deletion delta F508 and mutation G542X, a nonsense mutation in exon 11 of the cystic fibrosis (CF) gene, in a sample of 400 Spanish CF families. Mutation G542X represents 8% of the total number of CF mutations in Spain, making it the second most common mutation after the delta F508 ...

journal_title：Human genetics

authors： Casals T,Nunes V,Palacio A,Giménez J,Gaona A,Ibáñez N,Morral N,Estivill X

更新日期：1993-03-01 00:00:00