Developmental changes in the protein profiles of human cardiac and skeletal muscle.

abstract：:Height and body mass index (BMI) have high heritability in most studies. High BMI and reduced height are well-recognized as important risk factors for a number of cardiovascular diseases. We investigated these phenotypes in African American families originally ascertained for studies of linkage with type 2 diabetes us...

journal_title：Annals of human genetics

authors： Sale MM,Freedman BI,Hicks PJ,Williams AH,Langefeld CD,Gallagher CJ,Bowden DW,Rich SS

更新日期：2005-09-01 00:00:00

abstract：:Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive skeletal disorder characterized by disproportionate short stature with shortening of the acromesomelic sections of the limbs. AMDM is caused by mutations in the NPR2 gene located on chromosome 9p21-p12. The gene encodes the natriuretic peptide rec...

journal_title：Annals of human genetics

authors： Irfanullah,Umair M,Khan S,Ahmad W

更新日期：2015-07-01 00:00:00

abstract：:A study has been made of 36 body and 11 craniofacial measurements in a selected sample of 251 Bulgarian families, comprising parents and their children over 15 years. The mid parent-offspring and correlation coefficients indicate that the extent of genetic determination varies considerably from one measurement to anot...

journal_title：Annals of human genetics

authors： Nikolova M

更新日期：1996-11-01 00:00:00

abstract：:MUC1 is a highly polymorphic mucin type glycoprotein expressed on the surface of many epithelia, including gastric mucosa, and is present in several body fluids and mucous secretions. A genetic polymorphism due to variation in length of a 60 bp tandemly repeated sequence domain constitutes more than half of the coding...

journal_title：Annals of human genetics

authors： Carvalho F,Peixoto A,Steffensen R,Amorim A,David L,Sobrinho-Simões M

更新日期：1999-05-01 00:00:00

abstract：:This palaeogenetic study focused on the analysis of a late prehispanic Argentinean group from the Humahuaca valley, with the main aim of reconstructing its (micro)evolutionary history. The Humahuaca valley, a natural passageway from the eastern plains to the highlands, was the living environment of Andean societies wh...

journal_title：Annals of human genetics

authors： Mendisco F,Keyser C,Seldes V,Rivolta C,Mercolli P,Cruz P,Nielsen AE,Crubezy E,Ludes B

更新日期：2014-09-01 00:00:00

abstract：:In order to study the matrilineal genetic composition in Cabo Verde (Republic of Cape Verde), an archipelago that used to serve as a Portuguese entrepôt of the Atlantic slave trade, we have analysed a total of 292 mtDNAs sampled from the seven inhabited islands for the hypervariable segment I (HVS-I) and some characte...

journal_title：Annals of human genetics

authors： Brehm A,Pereira L,Bandelt HJ,Prata MJ,Amorim A

更新日期：2002-01-01 00:00:00

abstract：:Nitric oxide is an important antiatherosclerotic agent. The main determinant of nitric oxide levels is enzyme nitric oxide synthase encoded by the NOS3 gene, the common variants in this gene may be responsible for variations in plasma enzyme levels. The association of NOS3 variants with coronary artery disease (CAD) v...

journal_title：Annals of human genetics

authors： Shahid SU,Shabana.,Rehman A

更新日期：2017-07-01 00:00:00

abstract：:The results of a chromosome survey of 3993 liveborn infants, the majority of which have been studied using G-banding, are reported. The frequency of all types of chromosome abnormalities detected was similar to that found in previous newborn surveys, which were carried out on different socio-economic structure, but th...

journal_title：Annals of human genetics

authors： Buckton KE,O'Riordan ML,Ratcliffe S,Slight J,Mitchell M,McBeath S,Keay AJ,Barr D,Short M

更新日期：1980-01-01 00:00:00

abstract：:Myasthenia gravis (MG) is considered to be a kind of autoimmune disorder resulting from dysfunction of neuromuscular transmission caused by autoantibodies against the nicotinic acetylcholine receptors. A number of studies have identified Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) as a candidate gene for MG. ...

journal_title：Annals of human genetics

authors： Li F,Yuan W,Wu X

更新日期：2018-11-01 00:00:00

abstract：:To identify interacting loci in genetic epidemiological studies the application of multi-locus methods of analysis is warranted. Several more advanced classification methods have been developed in the past years, including multiple logistic regression, sum statistics, logic regression, and the multifactor dimensionali...

journal_title：Annals of human genetics

authors： Vermeulen SH,Den Heijer M,Sham P,Knight J

更新日期：2007-09-01 00:00:00

abstract：:Genome-wide association studies have separately identified four single nucleotide polymorphisms (SNPs) on chromosome 9p21 that confer susceptibility to coronary artery disease (CAD) and myocardial infarction (MI). This study presents the first analysis of these SNPs (rs10757274, rs2383206, rs2383207, and rs10757278) i...

journal_title：Annals of human genetics

authors： Abdullah KG,Li L,Shen GQ,Hu Y,Yang Y,MacKinlay KG,Topol EJ,Wang QK

更新日期：2008-09-01 00:00:00

abstract：:The Samaritan community is a small, isolated, and highly endogamous group numbering some 650 members who have maintained extensive genealogical records for the past 13-15 generations. We performed mutation detection experiments on mitochondrial DNAs and Y chromosomes from confirmed maternal and paternal lineages to es...

journal_title：Annals of human genetics

authors： Bonné-Tamir B,Korostishevsky M,Redd AJ,Pel-Or Y,Kaplan ME,Hammer MF

更新日期：2003-03-01 00:00:00

abstract：:It has been suggested that an X-linked dominant allele operates in the genetic transmission of bipolar (manic-depressive) illness. Linkage studies with X-chromosome markers have remained inconclusive, showing both positive and negative results. Some of the ambiguity may be attributed to imprecise analytic methods and ...

journal_title：Annals of human genetics

authors： Risch N,Baron M

更新日期：1982-05-01 00:00:00

abstract：:Sherman et al. (1984) concluded from a cytogenetic and genetic analysis of families with the marker (X) syndrome that the rate of the mutation leading to this syndrome is extraordinarily high (7.2 X 10(-4) in male germ cells), and that these mutations occur exclusively in male germ cells. It is shown by some model cal...

journal_title：Annals of human genetics

authors： Vogel F

更新日期：1984-10-01 00:00:00

abstract：:An isoelectric focusing method for human GDH is described which reveals seven GDH phenotypes. Family studies demonstrate that the variation is genetically determined by three alleles at an autosomal locus with gene frequencies GDH1 = 0.723, GDH2 = 0.194, GDH3 = 0.083. Linkage analysis shows that GDH may be closely lin...

journal_title：Annals of human genetics

authors： King J,Cook PJ

更新日期：1981-05-01 00:00:00

abstract：:Genome-wide association (GWA) studies have identified around 20 common genetic variants influencing the risk of type 2 diabetes (T2D). Likewise, a number of variants have been associated with diabetes-related quantitative glycaemic traits, but to date the overlap between these genes and variants has been low. The majo...

journal_title：Annals of human genetics

authors： Franklin CS,Aulchenko YS,Huffman JE,Vitart V,Hayward C,Polašek O,Knott S,Zgaga L,Zemunik T,Rudan I,Campbell H,Wright AF,Wild SH,Wilson JF

更新日期：2010-11-01 00:00:00

abstract：:The routine performance of high-altitude (HA) natives in the hypoxic environment of HA exemplifies the process of adaptation mainly through natural selection. The recent therapeutic application of nitric oxide (NO) in HA disorders, for the improvement of oxygenation and vasodilation, ushered us to investigate the endo...

journal_title：Annals of human genetics

authors： Ahsan A,Norboo T,Baig MA,Qadar Pasha MA

更新日期：2005-05-01 00:00:00

abstract：:Risch and Zhang recently proposed to use extreme discordant sib pairs for mapping quantitative trait loci. Here, it is shown that the set of genetically possible distributions of the number of marker alleles in such sib-pairs is described by two inequalities. Thus, a likelihood ratio test analogous to Holmans's possib...

journal_title：Annals of human genetics

authors： Knapp M

更新日期：1998-01-01 00:00:00

abstract：:1. Two methods have been devised for the detection after electrophoresis of gamma-aminobutyric acid transaminase (GABAT) isozymes. 2. GABAT isozymes can be detected in liver, brain, kidney, pancreas, heart, testis. spinal cord and upper jejunum. The greatest activity occurs in liver. 3. Three different commonly occurr...

journal_title：Annals of human genetics

authors： Jeremiah S,Povey S

更新日期：1981-07-01 00:00:00

abstract：:Male and female sibs born to third-cousin parents presented with mental retardation, microcephaly, short stature, juvenile onset limb-girdle muscular dystrophy and multiple chromosome mosaicism in lymphocytes and fibroblasts. Different aneuploidies (mostly trisomies) were found in 15-20% of the cells and trisomies for...

journal_title：Annals of human genetics

authors： Papi L,Montali E,Marconi G,Guazzelli R,Bigozzi U,Maraschio P,Zuffardi O

更新日期：1989-07-01 00:00:00

abstract：:CYP2C19, a member of the cytochrome P450 family, metabolises arachidonic acid to produce epoxyeicosanoid acids, which are involved in vascular tone and inflammation. Thus, this study describes the possible relationship between a CYP2C19 polymorphism (681G>A) and three inflammatory markers: interleukin (IL)-6, tumor ne...

journal_title：Annals of human genetics

authors： Bertrand-Thiébault C,Berrahmoune H,Thompson A,Marie B,Droesch S,Siest G,Foernzler D,Visvikis-Siest S

更新日期：2008-03-01 00:00:00

abstract：:As knowledge of the human genome continues to grow, more progress is being made towards not only identifying the genes involved in disease susceptibility but also in defining the synergistic role genes play with environmental exposures. The detection of gene-environment interactions is important as it can offer clinic...

journal_title：Annals of human genetics

authors： Lake SL,Laird NM

更新日期：2004-01-01 00:00:00

abstract：:Parkinson disease (PD) is a chronic neurodegenerative disorder with a cumulative prevalence of greater than one per thousand. To date three independent genome-wide association studies (GWAS) have investigated the genetic susceptibility to PD. These studies implicated several genes as PD risk loci with strong, but not ...

journal_title：Annals of human genetics

authors： Edwards TL,Scott WK,Almonte C,Burt A,Powell EH,Beecham GW,Wang L,Züchner S,Konidari I,Wang G,Singer C,Nahab F,Scott B,Stajich JM,Pericak-Vance M,Haines J,Vance JM,Martin ER

更新日期：2010-03-01 00:00:00

abstract：:The Fifth International workshop on chromosome 9 comprised a gathering of 36 scientists from seven countries and included a fairly even distribution of interests along chromosome 9 as well as a strong input from more global activities and from comparative mapping. At least eight groups had participated in the goal set...

journal_title：Annals of human genetics

authors： Povey S,Attwood J,Chadwick B,Frezal J,Haines JL,Knowles M,Kwiatkowski DJ,Olopade OI,Slaugenhaupt S,Spurr NK,Smith M,Steel K,White JA,Pericak-Vance MA

更新日期：1997-05-01 00:00:00

abstract：:Selection of important genetic and environmental factors is of strong interest in quantitative trait analyses. In this study, we use parallel genetic algorithm (PGA) to identify genetic and environmental factors in genetic association studies of complex human diseases. Our method can take account of both multiple mark...

journal_title：Annals of human genetics

authors： Mukhopadhyay S,George V,Xu H

更新日期：2010-01-01 00:00:00

abstract：:The human population is heterogeneous in genetic susceptibility, chromosomal instability and disease risk; all factors which depend on inherited genetic constitution and acquired nongenetic environmental and occupational factors. Recently, special attention has been directed to the identification of sources of potenti...

journal_title：Annals of human genetics

authors： Hoyos-Giraldo LS,Escobar-Hoyos LF,Reyes-Carvajal I,García JJ,Córdoba L,Gómez AS,García-Vallejo F,Cajas-Salazar N,Carvajal S,Bedoya G

更新日期：2013-07-01 00:00:00

abstract：:Co-segregation studies based on a selection of intragenic restriction fragment length polymorphisms of the low density lipoprotein receptor (LDLR) gene have been used extensively both for research and diagnostic studies of familial hypercholesterolaemia (FH) families, because direct mutation screening remains complex....

journal_title：Annals of human genetics

authors： Haddad L,Day LB,Attwood J,Povey S,Humphries SE,Day IN

更新日期：1997-11-01 00:00:00

abstract：:Peutz-Jeghers' syndrome (PJS) is a disease with autosomal dominant inheritance, which is characterised by gastrointestinal hamartomata and characteristic melanin pigmentation. Three candidate sites for a PJS locus have recently been proposed, chromosomes 1p31-p32, 6q25 and 6p11-cen. At the first of these sites, a mult...

journal_title：Annals of human genetics

authors： Tomlinson IP,Olschwang S,Abelovitch D,Nakamura Y,Bodmer WF,Thomas G,Markie D

更新日期：1996-09-01 00:00:00

abstract：:Two popular and robust approaches to analysing affected sib pair (ASP) data for linkage are the traditional excess sharing methods and the transmission/disequilibrium test (TDT). Here we derive an overall test of linkage for multi-allelic ASP marker data which comprises two component tests: one for excess sharing and ...

journal_title：Annals of human genetics

authors： Wicks J,Wilson SR

更新日期：2000-09-01 00:00:00

abstract：:The problem of ordering and mapping genes on the basis of recombinant data and radiation hybrid data is formulated as a problem of Bayesian inference for an unknown permutation. The challenging computational problems posed by this approach are shown to be resolvable using Markov chain Monte Carlo methods. ...

journal_title：Annals of human genetics

authors： Stephens DA,Smith AF

更新日期：1993-01-01 00:00:00