X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.

abstract：:Progressive X-linked cone-rod dystrophy (COD1) is a retinal disease affecting primarily the cone photoreceptors. The COD1 locus originally was localized, by the study of three independent families, to a region between Xp11.3 and Xp21.1, encompassing the retinitis pigmentosa (RP) 3 locus. We have refined the COD1 locus...

journal_title：American journal of human genetics

authors： Seymour AB,Dash-Modi A,O'Connell JR,Shaffer-Gordon M,Mah TS,Stefko ST,Nagaraja R,Brown J,Kimura AE,Ferrell RE,Gorin MB

更新日期：1998-01-01 00:00:00

abstract：:Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive progressive neurodegenerative disease that presents within the first 2 years of life and culminates in death by age 10 years. Affected individuals from two unrelated Bedouin Israeli kindreds were studied. Brain imaging demonstrated diffuse cerebellar atr...

journal_title：American journal of human genetics

authors： Khateeb S,Flusser H,Ofir R,Shelef I,Narkis G,Vardi G,Shorer Z,Levy R,Galil A,Elbedour K,Birk OS

更新日期：2006-11-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA) polymorphisms were detected using 13 restriction enzymes on the total DNA obtained from blood samples of five Asian populations: Japanese and Ainu of northern Japan, Korean, Negrito (Aeta) of the Philippines, and Vedda of Sri Lanka. Of a total of 28 restriction-enzyme morphs detected, eight h...

journal_title：American journal of human genetics

authors： Harihara S,Saitou N,Hirai M,Gojobori T,Park KS,Misawa S,Ellepola SB,Ishida T,Omoto K

更新日期：1988-08-01 00:00:00

abstract：:Type IV (alpha 1 and alpha 2 chains) appears to be the only procollagen present in basement membranes. The structure of this protein is highly divergent from the interstitial and type V procollagens as exemplified by the interruptions in the Gly-X-Y region and unprocessed amino and carboxyl noncollagenous peptides. To...

journal_title：American journal of human genetics

authors： Emanuel BS,Sellinger BT,Gudas LJ,Myers JC

更新日期：1986-01-01 00:00:00

abstract：:In linkage analysis, when the lod score is maximized over multiple genetic models, standard asymptotic approximation of the significance level does not apply. Monte Carlo methods can be used to estimate the p value, but procedures currently used are extremely inefficient. We propose a Monte Carlo procedure based on th...

journal_title：American journal of human genetics

authors： Kong A,Frigge M,Irwin M,Cox N

更新日期：1992-12-01 00:00:00

abstract：:The AIMilano apoprotein variant is associated with a marked reduction of high density lipoprotein (HDL) cholesterol levels and with increased triglyceridemia. In spite of the low HDL-cholesterol (HDL-Ch), carriers do not generally show clinical signs of atherosclerosis. The biochemical disorder is linked to a molecula...

journal_title：American journal of human genetics

authors： Gualandri V,Franceschini G,Sirtori CR,Gianfranceschi G,Orsini GB,Cerrone A,Menotti A

更新日期：1985-11-01 00:00:00

abstract：:Recently, a new locus (PARK8) for autosomal dominant parkinsonism has been identified in one large Japanese family. Linkage has been shown to a 16-cM centromeric region of chromosome 12, between markers D12S1631 and D12S339. We tested 21 white families with Parkinson disease and an inheritance pattern compatible with ...

journal_title：American journal of human genetics

authors： Zimprich A,Müller-Myhsok B,Farrer M,Leitner P,Sharma M,Hulihan M,Lockhart P,Strongosky A,Kachergus J,Calne DB,Stoessl J,Uitti RJ,Pfeiffer RF,Trenkwalder C,Homann N,Ott E,Wenzel K,Asmus F,Hardy J,Wszolek Z,Gasser T

更新日期：2004-01-01 00:00:00

abstract：:Experiments designed to illuminate the mechanism by which folic acid and thymidine inhibit expression of the Xq28 fragile site in human lymphocytes are described. The fragile site is induced by 5-fluorodeoxyuridine (FUdR), a potent inhibitor of thymidylate synthetase, in the presence of otherwise inhibiting concentrat...

journal_title：American journal of human genetics

authors： Glover TW

更新日期：1981-03-01 00:00:00

abstract：:A population-based study of hemophilia B mutations was conducted in the United Kingdom in order to construct a national confidential database of mutations and pedigrees to be used for the provision of carrier and prenatal diagnoses based on mutation detection. This allowed the direct estimate of overall (micro), male ...

journal_title：American journal of human genetics

authors： Green PM,Saad S,Lewis CM,Giannelli F

更新日期：1999-12-01 00:00:00

abstract：:The Ta (transcribed, subset a) subfamily of L1 LINEs (long interspersed elements) is characterized by a 3-bp ACA sequence in the 3' untranslated region and contains approximately 520 members in the human genome. Here, we have extracted 468 Ta L1Hs (L1 human specific) elements from the draft human genomic sequence and ...

journal_title：American journal of human genetics

authors： Myers JS,Vincent BJ,Udall H,Watkins WS,Morrish TA,Kilroy GE,Swergold GD,Henke J,Henke L,Moran JV,Jorde LB,Batzer MA

更新日期：2002-08-01 00:00:00

abstract：:When the mode of inheritance of a disease is unknown, the LOD-score method of linkage analysis must take into account uncertainties in model parameters. We have previously proposed a parametric linkage test called "MFLOD," which does not require specification of disease model parameters. In the present study, we intro...

journal_title：American journal of human genetics

authors： Sham PC,Lin MW,Zhao JH,Curtis D

更新日期：2000-05-01 00:00:00

abstract：:Palindromic AT-rich repeats (PATRRs) on chromosomes 11q23 and 22q11 at the constitutional t(11;22) breakpoint are predicted to induce genomic instability, which mediates the translocation. A PCR-based translocation-detection system for the t(11;22) has been developed with PCR primers flanking the PATRRs of both chromo...

journal_title：American journal of human genetics

authors： Kurahashi H,Shaikh TH,Zackai EH,Celle L,Driscoll DA,Budarf ML,Emanuel BS

更新日期：2000-09-01 00:00:00

abstract：:SPG23 is an autosomal-recessive neurodegenerative subtype of lower limb spastic paraparesis with additional diffuse skin and hair dyspigmentation at birth followed by further patchy pigment loss during childhood. Previously, genome-wide linkage in an Arab-Israeli pedigree mapped the gene to an approximately 25 cM locu...

journal_title：American journal of human genetics

authors： Lee JYW,Hsu CK,Michael M,Nanda A,Liu L,McMillan JR,Pourreyron C,Takeichi T,Tolar J,Reid E,Hayday T,Blumen SC,Abu-Mouch S,Straussberg R,Basel-Vanagaite L,Barhum Y,Zouabi Y,Al-Ajmi H,Huang HY,Lin TC,Akiyama M,Lee

更新日期：2017-02-02 00:00:00

abstract：:In the present work, we demonstrate the possibility of using human blood platelets as mitochondrial donors for the repopulation of mtDNA-less (rho 0) cells. The noninvasive nature of platelet isolation, combined with the prolonged viability of platelet mitochondria and the simplicity and efficiency of the mitochondria...

journal_title：American journal of human genetics

authors： Chomyn A,Lai ST,Shakeley R,Bresolin N,Scarlato G,Attardi G

更新日期：1994-06-01 00:00:00

abstract：:The chromosomes of two patients with ring 13 (r13) were studied using high-resolution RBG banding of prometaphase cells. The rings of the two patients differ slightly in breakpoints. Cell with multiple single, double-sized rings, quadruple-sized rings, rod- and ring-shaped fragments, and fragments showing varied state...

journal_title：American journal of human genetics

authors： Jones IM,Palmer CG,Weaver DD,Hodes ME

更新日期：1981-03-01 00:00:00

abstract：:In this report we describe the use of dystrophin analysis both in the diagnosis of Duchenne muscular dystrophy (DMD) in an aborted fetus and in genetic counseling. Our consultand's initial carrier risk, as based on family history and creatine kinase determinations, was calculated as 0.6%. DNA analysis of her family (a...

journal_title：American journal of human genetics

authors： Bieber FR,Hoffman EP,Amos JA

更新日期：1989-09-01 00:00:00

abstract：:Four subjects with thermolabile methylenetetrahydrofolate reductase (MTHFR) were discovered among 16 "obligate" heterozygotes for severe MTHFR deficiency and their family members. All four subjects had less than 25% of normal mean MTHFR specific activity in lymphocyte extracts. Three of them with normal serum folate a...

journal_title：American journal of human genetics

authors： Kang SS,Wong PW,Bock HG,Horwitz A,Grix A

更新日期：1991-03-01 00:00:00

abstract：:Two of the three class I alcohol dehydrogenase (ADH) genes (ADH2 and ADH3) encode known functional variants that act on alcohol with different efficiencies. Variants at both these genes have been implicated in alcoholism in some populations because allele frequencies differ between alcoholics and controls. Specificall...

journal_title：American journal of human genetics

authors： Osier M,Pakstis AJ,Kidd JR,Lee JF,Yin SJ,Ko HC,Edenberg HJ,Lu RB,Kidd KK

更新日期：1999-04-01 00:00:00

abstract：:Cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. By using homozygosity mapping in an individual with autosomal-recessive (ar) RP from a consanguineous family, we identified three sizeable homozygous regions, together encompassing 46 Mb...

journal_title：American journal of human genetics

authors： Estrada-Cuzcano A,Neveling K,Kohl S,Banin E,Rotenstreich Y,Sharon D,Falik-Zaccai TC,Hipp S,Roepman R,Wissinger B,Letteboer SJ,Mans DA,Blokland EA,Kwint MP,Gijsen SJ,van Huet RA,Collin RW,Scheffer H,Veltman JA,Zrenne

更新日期：2012-01-13 00:00:00

abstract：:Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the low-density-lipoprotein (LDL) receptor. Here we characterize an LDL-receptor founder mutation that is associated with a distinct LDL-receptor haplotype and is responsible for FH in 35% of 71 Jewish-Ashkenazi FH families in I...

journal_title：American journal of human genetics

authors： Meiner V,Landsberger D,Berkman N,Reshef A,Segal P,Seftel HC,van der Westhuyzen DR,Jeenah MS,Coetzee GA,Leitersdorf E

更新日期：1991-08-01 00:00:00

abstract：:Allelic data for the D1S80 locus was obtained by using the PCR and subsequent analysis with a high-resolution, horizontal PAGE technique and silver staining. Compared with RFLP analysis of VNTR loci by Southern blotting, the approach described in this paper offers certain advantages: (1) discrete allele resolution, (2...

journal_title：American journal of human genetics

authors： Budowle B,Chakraborty R,Giusti AM,Eisenberg AJ,Allen RC

更新日期：1991-01-01 00:00:00

abstract：:Although the use of model systems for studying the mechanism of mutations that have a large effect is common, we highlight here the ways that zebrafish-model-system studies of a gene, GRIK5, that contributes to the polygenic liability to develop eye diseases have helped to illuminate a mechanism that implicates vascul...

journal_title：American journal of human genetics

authors： Unlu G,Gamazon ER,Qi X,Levic DS,Bastarache L,Denny JC,Roden DM,Mayzus I,Breyer M,Zhong X,Konkashbaev AI,Rzhetsky A,Knapik EW,Cox NJ

更新日期：2019-03-07 00:00:00

abstract：:DNA methylation is assumed to be complementary on both alleles across the genome, although there are exceptions, notably in regions subject to genomic imprinting. We present a genome-wide survey of the degree of allelic skewing of DNA methylation with the aim of identifying previously unreported differentially methyla...

journal_title：American journal of human genetics

authors： Schalkwyk LC,Meaburn EL,Smith R,Dempster EL,Jeffries AR,Davies MN,Plomin R,Mill J

更新日期：2010-02-12 00:00:00

abstract：:Paget disease of bone (PDB) is a skeletal disorder characterized by focal abnormalities of bone remodeling, which result in enlarged and deformed bones in one or more regions of the skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant...

journal_title：American journal of human genetics

authors： Divisato G,Formicola D,Esposito T,Merlotti D,Pazzaglia L,Del Fattore A,Siris E,Orcel P,Brown JP,Nuti R,Strazzullo P,Benassi MS,Cancela ML,Michou L,Rendina D,Gennari L,Gianfrancesco F

更新日期：2016-02-04 00:00:00

abstract：:We identified four different missense mutations in the single-exon gene MAB21L2 in eight individuals with bilateral eye malformations from five unrelated families via three independent exome sequencing projects. Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.15...

journal_title：American journal of human genetics

authors： Rainger J,Pehlivan D,Johansson S,Bengani H,Sanchez-Pulido L,Williamson KA,Ture M,Barker H,Rosendahl K,Spranger J,Horn D,Meynert A,Floyd JA,Prescott T,Anderson CA,Rainger JK,Karaca E,Gonzaga-Jauregui C,Jhangiani S,Mu

更新日期：2014-06-05 00:00:00

abstract：:When population geneticists wish to determine the genetic consequences of some aspect of mating behavior, it is often necessary to compare observed levels of consanguinity to the level expected when mating is random with respect to the factor being studied. Expectations under random mating are often derived from discr...

journal_title：American journal of human genetics

authors： Leslie PW

更新日期：1983-09-01 00:00:00

abstract：:X chromosome- and Y chromosome-specific DNA probes were used to study different aspects of the genesis of sex-chromosome monosomy. Using X-linked RFLPs, we studied the parental origin of the single X chromosome in 35 spontaneously aborted and five live-born 45,X conceptions. We determined the origin in 35 cases; 28 ha...

journal_title：American journal of human genetics

authors： Hassold T,Benham F,Leppert M

更新日期：1988-04-01 00:00:00

abstract：:Genetic testing has increased the number of variants identified in disease genes, but the diagnostic utility is limited by lack of understanding variant function. CARD11 encodes an adaptor protein that expresses dominant-negative and gain-of-function variants associated with distinct immunodeficiencies. Here, we used ...

journal_title：American journal of human genetics

authors： Meitlis I,Allenspach EJ,Bauman BM,Phan IQ,Dabbah G,Schmitt EG,Camp ND,Torgerson TR,Nickerson DA,Bamshad MJ,Hagin D,Luthers CR,Stinson JR,Gray J,Lundgren I,Church JA,Butte MJ,Jordan MB,Aceves SS,Schwartz DM,Milner

更新日期：2020-12-03 00:00:00

abstract：:Allan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990). Six large families with the syndrome have been identified, and linkage studies have placed the gene locus in Xq13.2. Mutati...

journal_title：American journal of human genetics

authors： Schwartz CE,May MM,Carpenter NJ,Rogers RC,Martin J,Bialer MG,Ward J,Sanabria J,Marsa S,Lewis JA,Echeverri R,Lubs HA,Voeller K,Simensen RJ,Stevenson RE

更新日期：2005-07-01 00:00:00

abstract：:Supernumerary marker chromosomes (SMCs) of chromosome 15, designated "SMC(15)s," are the most common SMC in humans, accounting for as much as 60% of all those observed. We report the characterization of 46 large SMC(15)s, using both fluorescence in situ hybridization and polymerase chain reaction analysis within and d...

journal_title：American journal of human genetics

authors： Roberts SE,Maggouta F,Thomas NS,Jacobs PA,Crolla JA

更新日期：2003-11-01 00:00:00