Sex- and age-dependent DNA methylation at the 17q12-q21 locus associated with childhood asthma.

abstract：:Serum samples from 170 unrelated individuals from the Suceava District of Roumania and from 199 unrelated individuals from Bucharest, Roumania were tested fro Gm(1,2,3,5,6,13,14,17,21) and Km(1)[Inv(1)]. Selected samples were also tested for Gm(15) and Gm(16). The frequencies of the three common Caucasoid haplotypes, ...

journal_title：Human genetics

authors： Johnson WE,Kohn PH,Steinberg AG

更新日期：1977-11-10 00:00:00

abstract：:Optic atrophy type 1 (OPA1, MIM 165500) is a dominantly inherited optic neuropathy that features low visual acuity leading in many cases to legal blindness. We have recently shown, with others, that mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein, underlie the dominant form of optic atrophy...

journal_title：Human genetics

authors： Delettre C,Griffoin JM,Kaplan J,Dollfus H,Lorenz B,Faivre L,Lenaers G,Belenguer P,Hamel CP

更新日期：2001-12-01 00:00:00

abstract：:In this paper observations are summarized and speculations discussed, and it is suggested that some loci on the distal short arm of the X chromosome (Xp) are not randomly inactivated in the female, because they are within the proximal part of the pairing segment between Xp and Yp. This peculiarity of gene expression m...

journal_title：Human genetics

authors： Polani PE

更新日期：1982-01-01 00:00:00

abstract：:A female child with mild dysmorphisms, motor and mental retardation had a 45,XX,-8,-8,+psu dic(8)(p23.3) karyotype in blood lymphocytes, skin fibroblasts and in a lymphoblastoid cell line. DNA analysis showed that the proposita was nullisomic for the 8pter region distal to D8S264, at less than 1 cM from the telomere. ...

journal_title：Human genetics

authors： Piantanida M,Dellavecchia C,Floridia G,Giglio S,Hoeller H,Dordi B,Danesino C,Schinzel A,Zuffardi O

更新日期：1997-06-01 00:00:00

abstract：:Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) near the human leukocyte antigen (HLA)-DP loci that were significantly correlated with outcomes of hepatitis B virus (HBV) infection. We performed a case-control study nested in a well-characterized cohort of booster recipients to a...

journal_title：Human genetics

authors： Wu TW,Chu CC,Ho TY,Chang Liao HW,Lin SK,Lin M,Lin HH,Wang LY

更新日期：2013-10-01 00:00:00

abstract：:The length of 44 silver-stained human autosomal pachytene complements was shown to vary from about 300 micrometer to at least 535 micrometer. The lengths of the individual 22 autosomal chromosomes of eight complements representing this interval was measured and the relative lengths calculated. For most of the chromoso...

journal_title：Human genetics

authors： Jørgensen AL,Bak AL

更新日期：1981-01-01 00:00:00

abstract：:In situ hybridization of tritiated cDNA probes for the gene for the B subunit of coagulation factor XIII localized the F13B locus to bands q31-q32.1 on human chromosome 1 and perhaps more precisely to sub-bands 1q31.2 or 1q31.3. Restriction fragment length polymorphisms (RFLPs) were detected with BglII, EcoRI and XbaI...

journal_title：Human genetics

authors： Webb GC,Coggan M,Ichinose A,Board PG

更新日期：1989-01-01 00:00:00

abstract：:Genetics-associated asthenoteratozoospermia is often seen in patients with multiple morphological abnormalities of the sperm flagella (MMAF). Although 24 causative genes have been identified, these explain only approximately half of patients with MMAF. Since sperm flagella and motile cilia (especially respiratory cili...

journal_title：Human genetics

authors： Guo T,Tu CF,Yang DH,Ding SZ,Lei C,Wang RC,Liu L,Kang X,Shen XQ,Yang YF,Tan ZP,Tan YQ,Luo H

更新日期：2021-01-03 00:00:00

abstract：:Sibs with apparent Dyggve-Melchior-Clausen (DMC) dwarfism and normal intelligence are described. Three other familial and 3 sporadic cases with DMC dwarfism and normal intelligence are known. Twelve familial and 9 sporadic cases are known with the usual combination of DMC dwarfism and severe mental retardation. Since ...

journal_title：Human genetics

authors： Spranger J,Bierbaum B,Herrmann J

更新日期：1976-08-30 00:00:00

abstract：:Transient neonatal diabetes mellitus (TNDM) is associated with overexpression of an imprinted locus on chromosome 6q24; this locus contains a differentially methylated region (DMR) consisting of an imprinted CpG island that normally allows expression only from the paternal allele of genes under its control. Three type...

journal_title：Human genetics

authors： Mackay DJ,Temple IK,Shield JP,Robinson DO

更新日期：2005-03-01 00:00:00

abstract：:Two major obstetric diseases, preeclampsia (PE), a pregnancy-induced endothelial dysfunction leading to hypertension and proteinuria, and intra-uterine growth-restriction (IUGR), a failure of the fetus to acquire its normal growth, are generally triggered by placental dysfunction. Many studies have evaluated gene expr...

journal_title：Human genetics

authors： Ruano CSM,Apicella C,Jacques S,Gascoin G,Gaspar C,Miralles F,Méhats C,Vaiman D

更新日期：2021-01-12 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 gene locus for hereditary retinoblastoma is on human chromosome 13, band q14. With this gene localization in mind, we cloned DNA fragments from this chromosome. Three of the fragments identify restriction fragment length polymorphisms. These three fragments are from the region 13q12-13q22, the chromosome region wh...

journal_title：Human genetics

authors： Dryja TP,Rapaport JM,Weichselbaum R,Bruns GA

更新日期：1984-01-01 00:00:00

abstract：:The Xq27.3 fragile site was found to be expressed in an XXX woman, who was mentally and physically normal, and in her son who was mentally retarded and showed behavioural and physical features characteristic of the fragile X syndrome. ...

journal_title：Human genetics

authors： Fuster C,Templado C,Miró R,Barrios L,Egozcue J

更新日期：1988-03-01 00:00:00

abstract：:Oxidative damage caused by reactive oxygen species (ROS) and other free radicals is involved in a number of pathological conditions including cancer. In a population-based case-control study of non-Hodgkin lymphoma (NHL) (n = 518 cases, 597 controls) among women in Connecticut, we analyzed one or more single nucleotid...

journal_title：Human genetics

authors： Lan Q,Zheng T,Shen M,Zhang Y,Wang SS,Zahm SH,Holford TR,Leaderer B,Boyle P,Chanock S

更新日期：2007-04-01 00:00:00

abstract：:Sphingolipid activator protein (SAP) deficiency, previously described in two sibs and shown to be caused by the absence of the common saposin precursor (prosaposin), was further characterized by biochemical lipid and enzyme studies and by ultrastructural analysis. The 20-week-old fetal sib had increased concentrations...

journal_title：Human genetics

authors： Bradová V,Smíd F,Ulrich-Bott B,Roggendorf W,Paton BC,Harzer K

更新日期：1993-09-01 00:00:00

abstract：:There have been a number of genome-wide linkage studies for adult height in recent years. These studies have yielded few well-replicated loci, and none have been further confirmed by the identification of associated gene variants. The inconsistent results may be attributable to the fact that few studies have combined ...

journal_title：Human genetics

authors： Ellis JA,Scurrah KJ,Duncan AE,Lamantia A,Byrnes GB,Harrap SB

更新日期：2007-04-01 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：: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：:Superoxide, which mitochondria mainly produce in vascular endothelial cells, plays an important role in the pathogenesis of atherosclerosis and coronary artery disease. Accordingly, mitochondrial functional differences are thought to be one of the most important factors for the risk of myocardial infarction among vari...

journal_title：Human genetics

authors： Nishigaki Y,Yamada Y,Fuku N,Matsuo H,Segawa T,Watanabe S,Kato K,Yokoi K,Yamaguchi S,Nozawa Y,Tanaka M

更新日期：2007-02-01 00:00:00

abstract：:To elucidate further the genetic mechanisms for follicular thyroid tumor development and progression, we allelotyped follicular thyroid tumors and other thyroid lesions from 92 patients. In general, a low frequency of loss of heterozygosity (LOH) was found, the highest being for chromosomes 3q, 10q, 11p, 11q, 13q, and...

journal_title：Human genetics

authors： Zedenius J,Wallin G,Svensson A,Grimelius L,Höög A,Lundell G,Bäckdahl M,Larsson C

更新日期：1995-07-01 00:00:00

abstract：:Results obtained so far on the C3 polymorphism suggest that the system should be a valuable marker in population studies. The instability of the complement component C3 may, however, cause some practical problems in population genetic fieldwork, since a certain fraction of serum samples may be difficult to type with c...

journal_title：Human genetics

authors： Seth PK,Seth S

更新日期：1976-08-30 00:00:00

abstract：:A correlation between the amount of rDNA and the frequency of participation in satellite associations is observed in a double-satellited human acrocentric chromosome. ...

journal_title：Human genetics

authors： Henderson AS,Atwood KC

更新日期：1976-01-28 00:00:00

abstract：:Primary immunodeficiencies (PIDs) comprise a diverse group of over 400 genetic disorders that result in clinically apparent immune dysfunction. Although PIDs are classically considered as Mendelian disorders with complete penetrance, we now understand that absent or partial clinical disease is often noted in individua...

journal_title：Human genetics

authors： Gruber C,Bogunovic D

更新日期：2020-06-01 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：:HPRT Ann Arbor is a variant of hypoxanthine (guanine) phosphoribosyl-transferase (HPRT: EC 2.4.2.8), which was identified in wo brothers with hyperuricemia and nephrolithiasis. In previous studies, this mutant enzyme was characterized by an increased Km for both substrates, a normal Vmax, a decreased intracellular con...

journal_title：Human genetics

authors： Fujimori S,Hidaka Y,Davidson BL,Palella TD,Kelley WN

更新日期：1988-05-01 00:00:00

abstract：:Birth weight has been shown to be associated with obesity and metabolic diseases in adulthood, however, the genetic contribution is still controversial. The objective of this analysis is to explore the genetic contribution to the relationship between birth weight and later risk for obesity and metabolic diseases in Hi...

journal_title：Human genetics

authors： Cai G,Cole SA,Haack K,Butte NF,Comuzzie AG

更新日期：2007-07-01 00:00:00

abstract：:A simple and rapid technique is described whereby the nucleolus organizer regions (NORs) of human chromosomes can be differentially stained with silver. This staining is followed by trypsin-Giemsa banding on the same metaphase chromosomes. The metaphases simultaneously exhibit silver-stained NORs and G bands, allowing...

journal_title：Human genetics

authors： Howell WM,Black DA

更新日期：1978-07-12 00:00:00

abstract：:The precise control of gene expression programs is crucial for the establishment of the diverse gene activity patterns required for the correct development, patterning and differentiation of the myriad of cell types within an organism. The crucial importance of non-coding regions of the genome in the control of gene r...

journal_title：Human genetics

authors： Bhatia S,Kleinjan DA

更新日期：2014-07-01 00:00:00

abstract：:The X-linked cyclin-dependent kinase-like 5 (CDKL5) gene is an important molecular determinant of early-onset intractable seizures with infantile spasms and Rett syndrome-like phenotype. The gene encodes a kinase that may influence components of molecular pathways associated with MeCP2. In humans there are two previou...

journal_title：Human genetics

authors： Williamson SL,Giudici L,Kilstrup-Nielsen C,Gold W,Pelka GJ,Tam PP,Grimm A,Prodi D,Landsberger N,Christodoulou J

更新日期：2012-02-01 00:00:00