Evidence for "deleted" or "silent" genes homozygous at the locus coding for the constant region of the gamma3 chain.

abstract：:A family history of coronary artery disease (CAD), especially when the disease occurs at a young age, is a potent risk factor for CAD. DNA collection in families in which two or more siblings are affected at an early age allows identification of genetic factors for CAD by linkage analysis. We performed a genomewide sc...

journal_title：American journal of human genetics

authors： Hauser ER,Crossman DC,Granger CB,Haines JL,Jones CJ,Mooser V,McAdam B,Winkelmann BR,Wiseman AH,Muhlestein JB,Bartel AG,Dennis CA,Dowdy E,Estabrooks S,Eggleston K,Francis S,Roche K,Clevenger PW,Huang L,Pedersen B,S

更新日期：2004-09-01 00:00:00

abstract：:Escobar syndrome is a form of arthrogryposis multiplex congenita and features joint contractures, pterygia, and respiratory distress. Similar findings occur in newborns exposed to nicotinergic acetylcholine receptor (AChR) antibodies from myasthenic mothers. We performed linkage studies in families with Escobar syndro...

journal_title：American journal of human genetics

authors： Hoffmann K,Muller JS,Stricker S,Megarbane A,Rajab A,Lindner TH,Cohen M,Chouery E,Adaimy L,Ghanem I,Delague V,Boltshauser E,Talim B,Horvath R,Robinson PN,Lochmüller H,Hübner C,Mundlos S

更新日期：2006-08-01 00:00:00

abstract：:Secondary genomic findings are increasingly being returned to individuals as opportunistic screening results. A secondary finding offers the chance to identify and mitigate disease that may otherwise be unrecognized in an individual. As a form of screening, secondary findings must be considered differently from sequen...

journal_title：American journal of human genetics

authors： Katz AE,Nussbaum RL,Solomon BD,Rehm HL,Williams MS,Biesecker LG

更新日期：2020-07-02 00:00:00

abstract：:Carotid intimal medial thickness (IMT) is a heritable quantitative measure of atherosclerosis. A genomewide linkage analysis was conducted to localize a quantitative-trait locus (QTL) influencing carotid IMT. Carotid IMT was measured in 596 men and 629 women from 311 extended families (1,242 sib pairs) in the Framingh...

journal_title：American journal of human genetics

authors： Fox CS,Cupples LA,Chazaro I,Polak JF,Wolf PA,D'Agostino RB,Ordovas JM,O'Donnell CJ

更新日期：2004-02-01 00:00:00

abstract：:A genetic analysis is presented of data from 22 Brazilian sibships with cases of acheiropodia (the handless and footless families of Brazil). Segregation analysis performed using a 16K CDC 3100 computer showed a segregation frequency of .245 +/- .040, which is close to the expected value of .25. No sporadic cases wer...

journal_title：American journal of human genetics

authors： Freire-Maia A,Freire-Maia N,Morton NE,Azevêdo ES,Quelce-Salgado A

更新日期：1975-07-01 00:00:00

abstract：:Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions and signaling molecules. These channels consist of connexin family proteins that allow for diversity of channel composition and conductance properties. The human ...

journal_title：American journal of human genetics

authors： Paznekas WA,Boyadjiev SA,Shapiro RE,Daniels O,Wollnik B,Keegan CE,Innis JW,Dinulos MB,Christian C,Hannibal MC,Jabs EW

更新日期：2003-02-01 00:00:00

abstract：:The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal microduplication syndrome described--the homologous recombination reciprocal of the Smith-Magenis syndrome (SMS) microde...

journal_title：American journal of human genetics

authors： Potocki L,Bi W,Treadwell-Deering D,Carvalho CM,Eifert A,Friedman EM,Glaze D,Krull K,Lee JA,Lewis RA,Mendoza-Londono R,Robbins-Furman P,Shaw C,Shi X,Weissenberger G,Withers M,Yatsenko SA,Zackai EH,Stankiewicz P,Lupsk

更新日期：2007-04-01 00:00:00

abstract：:In studying the relationship between genetic abnormalities of red blood cells and malaria endemicity in the Vanuatu archipelago in the southwestern Pacific, we have found that of 1,442 males tested, 98 (6.8%) were G6PD deficient. The prevalence of GdPD deficiency varied widely (0%-39%), both from one island to another...

journal_title：American journal of human genetics

authors： Ganczakowski M,Town M,Bowden DK,Vulliamy TJ,Kaneko A,Clegg JB,Weatherall DJ,Luzzatto L

更新日期：1995-01-01 00:00:00

abstract：:Association studies offer an exciting approach to finding underlying genetic variants of complex human diseases. However, identification of genetic variants still includes difficult challenges, and it is important to develop powerful new statistical methods. Currently, association methods may depend on single-locus an...

journal_title：American journal of human genetics

authors： Wang T,Elston RC

更新日期：2007-02-01 00:00:00

abstract：:Otitis media (OM) is the most common childhood disease. Almost all children experience at least one episode, but morbidity is greatest in children who experience chronic/recurrent OM (COME/ROM). There is mounting evidence that COME/ROM clusters in families and exhibits substantial heritability. Subjects who had tympan...

journal_title：American journal of human genetics

authors： Daly KA,Brown WM,Segade F,Bowden DW,Keats BJ,Lindgren BR,Levine SC,Rich SS

更新日期：2004-12-01 00:00:00

abstract：:The human SNRPN (small nuclear ribonucleoprotein polypeptide N) gene is one of a gene family that encode proteins involved in pre-mRNA splicing and maps to the smallest deletion region involved in the Prader-Willi syndrome (PWS) within chromosome 15q11-q13. Paternal only expression of SNRPN has previously been demonst...

journal_title：American journal of human genetics

authors： Glenn CC,Saitoh S,Jong MT,Filbrandt MM,Surti U,Driscoll DJ,Nicholls RD

更新日期：1996-02-01 00:00:00

abstract：:Genome-wide association studies (GWASs) have been successful in detecting variants correlated with phenotypes of clinical interest. However, the power to detect these variants depends on the number of individuals whose phenotypes are collected, and for phenotypes that are difficult to collect, the sample size might be...

journal_title：American journal of human genetics

authors： Hormozdiari F,Kang EY,Bilow M,Ben-David E,Vulpe C,McLachlan S,Lusis AJ,Han B,Eskin E

更新日期：2016-07-07 00:00:00

abstract：:Alzheimer disease (AD) is the most common cause of dementia. We conducted a genome screen of 103 patients with late-onset AD who were ascertained as part of the Genetic Research in Isolated Populations (GRIP) program that is conducted in a recently isolated population from the southwestern area of The Netherlands. All...

journal_title：American journal of human genetics

authors： Liu F,Arias-Vásquez A,Sleegers K,Aulchenko YS,Kayser M,Sanchez-Juan P,Feng BJ,Bertoli-Avella AM,van Swieten J,Axenovich TI,Heutink P,van Broeckhoven C,Oostra BA,van Duijn CM

更新日期：2007-07-01 00:00:00

abstract：:Humans vary >100-fold in their sensitivity to the harmful effects of ultraviolet radiation. The main determinants of sensitivity are melanin pigmentation and less-well-characterized differences in skin inflammation and repair processes. Pigmentation has a high heritability, but susceptibility to cancers of the skin, a...

journal_title：American journal of human genetics

authors： Rees JL

更新日期：2004-11-01 00:00:00

abstract：:The MID1 gene in Xp22 codes for a novel member of proteins containing a RING finger, B-box, coiled-coil and a conserved C-terminal domain. Initially, three mutations in the C-terminal region were found in patients with Opitz G/BBB syndrome, a defect of midline development. Here we have determined the complete gene str...

journal_title：American journal of human genetics

authors： Gaudenz K,Roessler E,Quaderi N,Franco B,Feldman G,Gasser DL,Wittwer B,Horst J,Montini E,Opitz JM,Ballabio A,Muenke M

更新日期：1998-09-01 00:00:00

abstract：:We report here the characterization of a large Chinese family with maternally transmitted aminoglycoside-induced and nonsyndromic deafness. In the absence of aminoglycosides, some matrilineal relatives in this family exhibited late-onset/progressive deafness, with a wide range of severity and age at onset. Notably, th...

journal_title：American journal of human genetics

authors： Zhao H,Li R,Wang Q,Yan Q,Deng JH,Han D,Bai Y,Young WY,Guan MX

更新日期：2004-01-01 00:00:00

abstract：:A modified alpha-N-acetylgalactosaminidase (NAGA) with alpha-galactosidase A (GLA)-like substrate specificity was designed on the basis of structural studies and was produced in Chinese hamster ovary cells. The enzyme acquired the ability to catalyze the degradation of 4-methylumbelliferyl-alpha-D-galactopyranoside. I...

journal_title：American journal of human genetics

authors： Tajima Y,Kawashima I,Tsukimura T,Sugawara K,Kuroda M,Suzuki T,Togawa T,Chiba Y,Jigami Y,Ohno K,Fukushige T,Kanekura T,Itoh K,Ohashi T,Sakuraba H

更新日期：2009-11-01 00:00:00

abstract：:A rare germ-line polymorphism in codon 47 of the p53 gene replaces the wild-type proline (CCG) with a serine (TCG). Restriction analysis of 101 human samples revealed the frequency of the rare allele to be 0% (n = 69) in Caucasians and 4.7% (3/64, n = 32) among African-Americans. To investigate the consequence of this...

journal_title：American journal of human genetics

authors： Felley-Bosco E,Weston A,Cawley HM,Bennett WP,Harris CC

更新日期：1993-09-01 00:00:00

abstract：:Band 3, the major transmembrane protein of erythrocytes, mediates the exchange of anions across the membrane and anchors the erythroid membrane skeleton. Proteins immunologically related to Band 3 have been detected in a variety of nonerythroid cells. We have isolated a human cDNA clone that encodes a protein related ...

journal_title：American journal of human genetics

authors： Palumbo AP,Isobe M,Huebner K,Shane S,Rovera G,Demuth D,Curtis PJ,Ballantine M,Croce CM,Showe LC

更新日期：1986-09-01 00:00:00

abstract：:We report the physical linkage of the gene encoding one of the subunits of the GABAA receptor (GABRA3) to the polymorphic locus DXS374 on the human X chromosome at Xq28. X-linked manic depression and other psychiatric disorders have been mapped to this region, and thus GABRA3 is a potential candidate gene for these di...

journal_title：American journal of human genetics

authors： Bell MV,Bloomfield J,McKinley M,Patterson MN,Darlison MG,Barnard EA,Davies KE

更新日期：1989-12-01 00:00:00

abstract：:Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional a...

journal_title：American journal of human genetics

authors： Sanna-Cherchi S,Khan K,Westland R,Krithivasan P,Fievet L,Rasouly HM,Ionita-Laza I,Capone VP,Fasel DA,Kiryluk K,Kamalakaran S,Bodria M,Otto EA,Sampson MG,Gillies CE,Vega-Warner V,Vukojevic K,Pediaditakis I,Makar GS,M

更新日期：2017-11-02 00:00:00

abstract：:Genetic linkage studies have linked congenital contractural arachnodactyly (CCA), a usually mild heritable connective-tissue disorder, to FBN2, the fibrillin gene on chromosome 5. Recently, FBN2 mutations in two patients with CCA have been described. Here we report an A-->T transversion at the -2 position of the conse...

journal_title：American journal of human genetics

authors： Wang M,Clericuzio CL,Godfrey M

更新日期：1996-11-01 00:00:00

abstract：:Antenatal Bartter syndrome is a variant of inherited renal-tubular disorders associated with hypokalemic alkalosis. This disorder typically presents as a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of this variant is a ...

journal_title：American journal of human genetics

authors： Vargas-Poussou R,Feldmann D,Vollmer M,Konrad M,Kelly L,van den Heuvel LP,Tebourbi L,Brandis M,Karolyi L,Hebert SC,Lemmink HH,Deschênes G,Hildebrandt F,Seyberth HW,Guay-Woodford LM,Knoers NV,Antignac C

更新日期：1998-06-01 00:00:00

abstract：:A patients with seizures, Von Willebrand disease, and symptoms of Turner syndrome was a chromosomal mosaic. In blood culture (1974), 56% of the cells were 45, X 33% 46, XXp+ and 11% 47,XXp + Xp +; in the skin, no cells with 47 chromosomes were found. Presumably the Xp + chromosome arose through a break in the Q-banded...

journal_title：American journal of human genetics

authors： Daly RF,Patau K,Therman E,Sarto GE

更新日期：1977-01-01 00:00:00

abstract：:Pc 1 Duarte is a mutant brain protein present in 32% of the normal human population with 2.6% being homozygous. Preliminary studies suggest an increased frequency of this mutation in individuals with affective disease. To determine if this mutant was present in primates, 32 fetal (wild)-born baboons were examined. All...

journal_title：American journal of human genetics

authors： Comings DE,Jalanko A,Kuehl TJ

更新日期：1981-01-01 00:00:00

abstract：:The Friedreich ataxia (FA) mutation has recently been identified as an unstable trinucleotide GAA repeat present 7-22 times in the normal population but amplified as many as > 1,000 times in FA. Since it is an autosomal recessive disease, FA does not show typical features observed in other dynamic mutation disorders, ...

journal_title：American journal of human genetics

authors： Monrós E,Moltó MD,Martínez F,Cañizares J,Blanca J,Vílchez JJ,Prieto F,de Frutos R,Palau F

更新日期：1997-07-01 00:00:00

abstract：:Acid sphingomyelinase (ASM) is the lipid hydrolase that is deficient in types A and B Niemann-Pick disease (NPD). Here, we demonstrate that the gene encoding ASM (SMPD1) is paternally imprinted and that differential expression of the mutant alleles in patients with ASM-deficient NPD and in carriers influences the dise...

journal_title：American journal of human genetics

authors： Simonaro CM,Park JH,Eliyahu E,Shtraizent N,McGovern MM,Schuchman EH

更新日期：2006-05-01 00:00:00

abstract：:Cytokines are essential regulatory components of the immune system, and their aberrant levels have been linked to many disease states. Despite increasing evidence that cytokines operate in concert, many of the physiological interactions between cytokines, and the shared genetic architecture that underlies them, remain...

journal_title：American journal of human genetics

authors： Nath AP,Ritchie SC,Grinberg NF,Tang HH,Huang QQ,Teo SM,Ahola-Olli AV,Würtz P,Havulinna AS,Santalahti K,Pitkänen N,Lehtimäki T,Kähönen M,Lyytikäinen LP,Raitoharju E,Seppälä I,Sarin AP,Ripatti S,Palotie A,Perola M,V

更新日期：2019-12-05 00:00:00

abstract：:Adolescent idiopathic scoliosis (AIS) is one of the most common orthopedic disorders, affecting up to 4% of schoolchildren worldwide. We studied seven unrelated multiplex families of southern Chinese descent with AIS, consisting of 25 affected members. A genomewide scan with >400 fluorescent microsatellite markers was...

journal_title：American journal of human genetics

authors： Chan V,Fong GC,Luk KD,Yip B,Lee MK,Wong MS,Lu DD,Chan TK

更新日期：2002-08-01 00:00:00

abstract：:Meta-analysis of genome-wide association studies (GWASs) has led to the discoveries of many common variants associated with complex human diseases. There is a growing recognition that identifying "causal" rare variants also requires large-scale meta-analysis. The fact that association tests with rare variants are perf...

journal_title：American journal of human genetics

authors： Hu YJ,Berndt SI,Gustafsson S,Ganna A,Genetic Investigation of ANthropometric Traits (GIANT) Consortium.,Hirschhorn J,North KE,Ingelsson E,Lin DY

更新日期：2013-08-08 00:00:00