Localization of the human oncogene SPI1 on chromosome 11, region p11.22.

abstract：:Human coagulation factor XII (fXII), a serine protease synthesized in liver and active in plasma, is involved in a wide variety of functions, including blood coagulation, fibrinolysis, bradykinin and complement activation. A complementary DNA (597 bp) encoding amino acid -16 to amino acid 183 of fXII protein was used ...

journal_title：Human genetics

authors： Citarella F,Tripodi M,Fantoni A,Bernardi F,Romeo G,Rocchi M

更新日期：1988-12-01 00:00:00

abstract：:Three hundred four HLA-A : HLA-B : Bf haplotypes of the Japanese population as deduced by family analysis are described. Several linkage disequilibriums were observed in the following two-factor haplotypes: HLA-A and HLA-B, HLA-A and Bf, and HLA-B and Bf. Positive linkage disequilibriums between HLA-A and HLA-B noted ...

journal_title：Human genetics

authors： Horai S,Juji T,Nakajima H

更新日期：1979-10-02 00:00:00

abstract：:The gene causing adenomatous polyposis coli (APC) has recently been cloned. Three intragenic polymorphisms were reported to be detectable by single-strand conformation polymorphism analysis. Here, we describe an assay using polymerase-chain-reaction-based amplification and subsequent enzymatic digestion of genomic seq...

journal_title：Human genetics

authors： Kraus C,Ballhausen WG

更新日期：1992-03-01 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：:We have used Y-specific and Y-derived DNA probes for in situ hybridization and Southern blotting analysis to characterize a Y;15 translocation showing normal Mendelian inheritance in a family. Cytogenetically there appeared to be an unbalanced translocation of Yqh to 15p; this translocation may be considered as a prot...

journal_title：Human genetics

authors： Alitalo T,Tiihonen J,Hakola P,de la Chapelle A

更新日期：1988-05-01 00:00:00

abstract：:Cerebrovascular and cardiovascular diseases are the leading causes of death and disability worldwide. They are complex disorders resulting from the interplay of genetic and environmental factors, and may share several susceptibility genes. Several recent studies have implicated variants of the Kalirin (KALRN) gene wit...

journal_title：Human genetics

authors： Krug T,Manso H,Gouveia L,Sobral J,Xavier JM,Albergaria I,Gaspar G,Correia M,Viana-Baptista M,Simões RM,Pinto AN,Taipa R,Ferreira C,Fontes JR,Silva MR,Gabriel JP,Matos I,Lopes G,Ferro JM,Vicente AM,Oliveira SA

更新日期：2010-03-01 00:00:00

abstract：:Disease-causing mutations have been identified in various entities of autosomal dominant ataxia and in Friedreich's ataxia. However, no molecular pathogenic factor is known to cause idiopathic cerebellar ataxias. We investigated the CAG/CTG trinucleotide repeats causing spinocerebellar ataxia types 1, 2, 3, 6, 7, 8 an...

journal_title：Human genetics

authors： Schöls L,Szymanski S,Peters S,Przuntek H,Epplen JT,Hardt C,Riess O

更新日期：2000-08-01 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：:We have observed a T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene in members of two Czech families and one black family. Data from initial studies suggested that this change was the cause of a beta-thalassemia, but continued analyses have provided convinci...

journal_title：Human genetics

authors： Divoky V,Baysal E,Oner R,Cürük MA,Walker EL 3rd,Indrak K,Huisman TH

更新日期：1994-01-01 00:00:00

abstract：:Distal hereditary motor neuropathies predominantly affect the motor neurons of the peripheral nervous system leading to chronic disability. Using whole genome sequencing (WGS) we have identified a novel structural variation (SV) within the distal hereditary motor neuropathy locus on chromosome 7q34-q36.2 (DHMN1). The ...

journal_title：Human genetics

authors： Drew AP,Cutrupi AN,Brewer MH,Nicholson GA,Kennerson ML

更新日期：2016-11-01 00:00:00

abstract：:We present a comprehensive clinically oriented workflow for large-insert genome sequencing (liGS)-based nucleotide level resolution and interpretation of de novo (dn) apparently balanced chromosomal abnormalities (BCA) in prenatal diagnosis (PND). Retrospective or concomitant with conventional PND and liGS, molecular ...

journal_title：Human genetics

authors： David D,Freixo JP,Fino J,Carvalho I,Marques M,Cardoso M,Piña-Aguilar RE,Morton CC

更新日期：2020-04-01 00:00:00

abstract：:The fatty acid-binding proteins (FABPs) are cytoplasmic proteins involved in intracellular fatty acid transport and metabolism. FABP2, the intestinal-type FABP, is expressed exclusively in enterocytes in the small intestine. In previous studies of an Ala54Thr substitution in FABP2, the Thr-allele showed association wi...

journal_title：Human genetics

authors： Damcott CM,Feingold E,Moffett SP,Barmada MM,Marshall JA,Hamman RF,Ferrell RE

更新日期：2003-05-01 00:00:00

abstract：:The most commonly accepted view about the origin of aneuploidy is that it is due to errors in meiotic division. However, its rare occurrence makes it difficult to explain recurrent births of trisomic children to some parents. This problem causes more serious concern when one accepts that an abnormal (n + 1 or n - 1) s...

journal_title：Human genetics

authors： Vig BK

更新日期：1984-01-01 00:00:00

abstract：:The human eye color is a quantitative trait displaying multifactorial inheritance. Several studies have shown that the OCA2 locus is the major contributor to the human eye color variation. By linkage analysis of a large Danish family, we finemapped the blue eye color locus to a 166 Kbp region within the HERC2 gene. By...

journal_title：Human genetics

authors： Eiberg H,Troelsen J,Nielsen M,Mikkelsen A,Mengel-From J,Kjaer KW,Hansen L

更新日期：2008-03-01 00:00:00

abstract：:Preterm birth (PTB) is the leading cause of infant mortality. PTB pathophysiology overlaps with those of adult cardiovascular, immune and metabolic disorders (CIMD), with mechanisms including inflammation, immunotolerance, thrombosis, and nutrient metabolism. Whereas many genetic factors for CIMD have been identified,...

journal_title：Human genetics

authors： Falah N,McElroy J,Snegovskikh V,Lockwood CJ,Norwitz E,Murray JC,Kuczynski E,Menon R,Teramo K,Muglia LJ,Morgan T

更新日期：2013-01-01 00:00:00

abstract：:Despite the recent discover of genome-editing methods, today we can say these approaches have firmly entered our life. Two approaches-knocking out malfunctioning gene allele or correcting the mutation with precise knock-in-can be used in hereditary monogenic diseases treatment. The latter approach is relatively ineffe...

journal_title：Human genetics

authors： Smirnikhina SA,Anuchina AA,Lavrov AV

更新日期：2019-01-01 00:00:00

abstract：:Inv dup(15) is a clinically significant bisatellited derivative of chromosome 15. Five unrelated patients with this abnormality are described and compared with ten confirmed and nine suspected cases in the literature. Mental and developmental retardation, hypotonia, behavioral disturbances, seizures, abnormal dermatog...

journal_title：Human genetics

authors： Wisniewski L,Hassold T,Heffelfinger J,Higgins JV

更新日期：1979-09-01 00:00:00

abstract：:A new mutant alpha-1-antichymotrypsin (variant ACT) was found by polymerase chain reaction single strand conformation polymorphism and direct sequencing. In this variant ACT, two bases (AA) were deleted from codon 391. This resulted in a different amino acid sequence downstream of the deletion point, elongating the pe...

journal_title：Human genetics

authors： Tsuda M,Sei Y,Matsumoto M,Kamiguchi H,Yamamoto M,Shinohara Y,Igarashi T,Yamamura M

更新日期：1992-12-01 00:00:00

abstract：:IL2RG, the gene encoding the common gamma chain, gamma c, of the receptor for interleukin-2 and other cytokines, has been identified as the disease gene for severe combined immunodeficiency (SCID) of the X-linked type. Specific mutational diagnosis for X-linked SCID has thus become possible. For many women at risk for...

journal_title：Human genetics

authors： Puck JM,Middelton L,Pepper AE

更新日期：1997-05-01 00:00:00

abstract：:We identified two additional mutations in the ferrochelatase gene in two Swiss patients with erythropoietic protoporphyria (EPP). Ferrochelatase cDNA from patients was amplified by the polymerase chain reaction (PCR) and subjected to mutation analysis by sequencing PCR products either directly or after subcloning. The...

journal_title：Human genetics

authors： Schneider-Yin X,Schäfer BW,Möhr P,Burg G,Minder EI

更新日期：1994-06-01 00:00:00

abstract：:ATP-sensitive K+ (K(ATP)) channels maintain cardiac homeostasis under stress, as revealed by murine gene knockout models of the KCNJ11-encoded Kir6.2 pore. However, the translational significance of K(ATP) channels in human cardiac physiology remains largely unknown. Here, the frequency of the minor K23 allele of the ...

journal_title：Human genetics

authors： Reyes S,Park S,Johnson BD,Terzic A,Olson TM

更新日期：2009-12-01 00:00:00

abstract：:A new biallelic polymorphism for FokI restriction enzyme due to C----T transition in the fourth intron of human DRD2 is described. It must be a usefull marker of this candidate gene for several mental disorders. ...

journal_title：Human genetics

authors： Lu CY,Gérard N,Méreaux AG,Chaventré A,Joly JP,Elion J,Krishnamoorthy R

更新日期：1992-05-01 00:00:00

abstract：:Developmental and epileptic encephalopathies (DEEs) are genetically heterogenous conditions, often characterized by early onset, EEG interictal epileptiform abnormalities, polymorphous and drug-resistant seizures, and neurodevelopmental impairments. In this study, we investigated the genetic defects in two siblings wh...

journal_title：Human genetics

authors： Fichera M,Failla P,Saccuzzo L,Miceli M,Salvo E,Castiglia L,Galesi O,Grillo L,Calì F,Greco D,Amato C,Romano C,Elia M

更新日期：2019-02-01 00:00:00

abstract：:Smallpox is a deadly and debilitating disease that killed hundreds of millions of people in the past century alone. The use of Vaccinia virus-based smallpox vaccines led to the eradication of smallpox. These vaccines are remarkably effective, inducing the characteristic pustule or "take" at the vaccine site in >97 % o...

journal_title：Human genetics

authors： Kennedy RB,Ovsyannikova IG,Pankratz VS,Haralambieva IH,Vierkant RA,Jacobson RM,Poland GA

更新日期：2012-09-01 00:00:00

abstract：:Lipoprotein(a) [Lp(a)] is a quantitative trait in human plasma. Lp(a) consists of a low-density lipoprotein and the plasminogen-related apolipoprotein(a) [apo(a)]. The apo(a) gene determines a size polymorphism of the protein, which is related to Lp(a) levels in plasma. In an attempt to gain a deeper insight into the ...

journal_title：Human genetics

authors： Kraft HG,Köchl S,Menzel HJ,Sandholzer C,Utermann G

更新日期：1992-11-01 00:00:00

abstract：:We propose a Bayesian hierarchical mixture model framework that allows us to investigate the genetic and environmental effects, gene by gene interactions and gene by environment interactions in the same model. Our approach incorporates the natural hierarchical structure between the main effects and interaction effects...

journal_title：Human genetics

authors： Liu C,Ma J,Amos CI

更新日期：2015-01-01 00:00:00

abstract：:Pre-eclampsia is the most common serious medical disorder of human pregnancy. The human endothelial cell nitric oxide synthase (eNOS) gene is a candidate for pre-eclampsia/eclampsia (PE/E) susceptibility. A linkage study was performed on Australian PE/E families using 25 microsatellite markers from chromosome 7, one o...

journal_title：Human genetics

authors： Guo G,Lade JA,Wilton AN,Moses EK,Grehan M,Fu Y,Qiu H,Cooper DW,Brennecke SP

更新日期：1999-12-01 00:00:00

abstract：:In a patient with Shwachman syndrome, a high incidence of chromosome breakage was found. Chromosome studies done on three occasions on the patient's PHA-stimulated peripheral blood lymphocytes showed elevated frequencies of spontaneous chromosome aberrations compared with those in normal individuals. The patient's lym...

journal_title：Human genetics

authors： Tada H,Ri T,Yoshida H,Ishimoto K,Kaneko M,Yamashiro Y,Shinohara T

更新日期：1987-11-01 00:00:00

abstract：:Nitric oxide (NO) mediates host resistance to severe malaria and other infectious diseases. NO production and mononuclear cell expression of the NO producing enzyme-inducible nitric oxide synthase (NOS2) have been associated with protection from severe falciparum malaria. The purpose of this study was to identify sing...

journal_title：Human genetics

authors： Levesque MC,Hobbs MR,O'Loughlin CW,Chancellor JA,Chen Y,Tkachuk AN,Booth J,Patch KB,Allgood S,Pole AR,Fernandez CA,Mwaikambo ED,Mutabingwa TK,Fried M,Sorensen B,Duffy PE,Granger DL,Anstey NM,Weinberg JB

更新日期：2010-02-01 00:00:00

abstract：:Linkage relationships to unassigned and provisionally assigned genetic markers were examined from 53 families segregating for various fragile sites. Fragile sites were at Xq27, 2q13, 6p23, 9p21, 9p32, 10q23, 10q25, 11q13, 11q23, 12q13 and 16p12. No new assignments were made but extensive exclusion data are presented f...

journal_title：Human genetics

authors： Mulley JC,Nicholls C,Sutherland GR

更新日期：1983-01-01 00:00:00