APOH interacts with FTO to predispose to healthy thinness.

abstract：:Mucopolysaccharidosis IVA (MPS IVA) is caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase encoded by the GALNS gene on chromosome 16. We describe, in detail, the clinical phenotype of five patients from three unrelated Finnish families and have characterized the disease-causing ...

journal_title：Human genetics

authors： Montaño AM,Kaitila I,Sukegawa K,Tomatsu S,Kato Z,Nakamura H,Fukuda S,Orii T,Kondo N

更新日期：2003-07-01 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：:This study was undertaken to analyze DNA methylation profiling at the monoamine oxidase A (MAOA) locus, in order to determine whether abnormal DNA methylation is involved in the development of schizophrenia. We recruited a total of 371 patients with paranoid schizophrenia (199 males and 172 females) and 288 unrelated ...

journal_title：Human genetics

authors： Chen Y,Zhang J,Zhang L,Shen Y,Xu Q

更新日期：2012-07-01 00:00:00

abstract：:The aim of this study was to identify regions of the genome that harbor genes influencing inheritance of bicuspid aortic valve (BAV) and/or associated cardiovascular malformation (CVM). Aortic valve disease is an important clinical problem, which often results in valve replacement, the second most common cardiac surge...

journal_title：Human genetics

authors： Martin LJ,Ramachandran V,Cripe LH,Hinton RB,Andelfinger G,Tabangin M,Shooner K,Keddache M,Benson DW

更新日期：2007-04-01 00:00:00

abstract：:Experiments have been performed to determine whether human lymphocytes in primary cultures can show an "adaptive" response to the induction of cellular lesions (manifested as a production of sister chromatid exchanges, SCEs) as previously found in bacteria and established human and mammalian cell lines. Human lymphocy...

journal_title：Human genetics

authors： Morimoto K,Sato-Mizuno M,Koizumi A

更新日期：1986-05-01 00:00:00

abstract：:A total of 15,387 individuals living in Hiroshima and Nagasaki, of whom 10,864 are unrelated, were examined for erythrocyte triosephosphate isomerase (TPI) by starch gel electrophoresis using TEMM buffer, pH 7.4. Four kinds of new variants, one having a cathodal migration and three having anodal migrations, were encou...

journal_title：Human genetics

authors： Asakawa J,Satoh C,Takahashi N,Fujita M,Kaneko J,Goriki K,Hazama R,Kageoka T

更新日期：1984-01-01 00:00:00

abstract：:As new genes for A/M are identified in the genomic era, the number of syndromes associated with A/M has greatly expanded. In this review, we provide a brief synopsis of the clinical presentation and molecular genetic etiology of previously characterized pathways involved in A/M, including the Sex-determining region Y-...

journal_title：Human genetics

authors： Slavotinek A

更新日期：2019-09-01 00:00:00

abstract：:We have studied the incidence of alpha-thalassemia in normal and SS individuals from Senegal, Benin, Upper Volta, and Central Republican Africa. The alpha thal gene frequency is not significantly different in the controls from the various populations and in the SS patients from Senegal. In contrast it is compatible wi...

journal_title：Human genetics

authors： Pagnier J,Dunda-Belkhodja O,Zohoun I,Teyssier J,Baya H,Jaeger G,Nagel RL,Labie D

更新日期：1984-01-01 00:00:00

abstract：:Peripheral blood lymphocytes from eight Fanconi anemia (FA) patients, 14 FA heterozygotes, and nine normal subjects have been tested for their susceptibility to chromosomal breakage induction by diepoxybutane (DEB) and by two peroxides. In addition, the effect of five antioxidants was investigated in standard cultures...

journal_title：Human genetics

authors： Dallapiccola B,Porfirio B,Mokini V,Alimena G,Isacchi G,Gandini E

更新日期：1985-01-01 00:00:00

abstract：:Human tumor cells, after x-irradiation during the G2 phase of the cell cycle, show an abnormally high frequency of persistent chromatid breaks and gaps resulting from deficient DNA repair. Addition of a single human chromosome 11 from normal fibroblasts by micro-cell fusion to cell lines from six different tumors resu...

journal_title：Human genetics

authors： Parshad R,Price FM,Oshimura M,Barrett JC,Satoh H,Weissman BE,Stanbridge EJ,Sanford KK

更新日期：1992-03-01 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：: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：:We report the first use of amnion epithelium for prenatal diagnosis. Prenatal diagnosis of recessive epidermolysis bullosa atrophicans generalisata gravis Herlitz type can at present be achieved with safety by detailed ultrastructural analysis of fetal skin. Because of the close developmental origin of amnion and skin...

journal_title：Human genetics

authors： Hausser I,Anton-Lamprecht I

更新日期：1990-08-01 00:00:00

abstract：:The erythrocytic and liver pyruvate kinases (PK) from a patient with congenital nonspherocytic hemolytic anemia have been studied. In red blood cells, the residual activity, 28% of the normal control, presented normal kinetic properties, instability to heat and urea, and slow electrophoretic mobility. The L-type PK fr...

journal_title：Human genetics

authors： Etiemble J,Picat C,Boivin P

更新日期：1982-01-01 00:00:00

abstract：:High-risk mucosal human papillomaviruses encode an E6 oncoprotein, which binds the cellular p53 tumor suppressor protein, thereby marking it for degradation through the ubiquitin-mediated pathway. A common p53 polymorphism at codon-72 of exon 4 results in translation to either arginine or proline. Recently reported da...

journal_title：Human genetics

authors： Tachezy R,Mikysková I,Saláková M,Van Ranst M

更新日期：1999-12-01 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：:Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease characterized by fibro-fatty replacement of right ventricular free wall myocardium and life-threatening ventricular arrhythmias. A missense mutation, c.1073C>T (p.S358L) in the transmembrane protein 43 (TMEM43) gene, has been genetically id...

journal_title：Human genetics

authors： Baskin B,Skinner JR,Sanatani S,Terespolsky D,Krahn AD,Ray PN,Scherer SW,Hamilton RM

更新日期：2013-11-01 00:00:00

abstract：:The GLI3 gene encodes a putative zinc finger transcription factor that is important in early vertebrate development. Haploinsufficiency of this gene has been associated with the Greig cephalopolysyndactyly syndrome and truncation mutations cause Pallister-Hall syndrome. In the course of studies to determine the etiolo...

journal_title：Human genetics

authors： Kang S,Rosenberg M,Ko VD,Biesecker LG

更新日期：1997-12-01 00:00:00

abstract：:Partial monosomy of 22q due to an unbalanced 4;22 translocation was seen in a 2-month-old male with Type I truncus arteriosus, dysmorphic features, and T-cell abnormalities. The family history revealed a previous sib with Type I truncus arteriosus, thymic aplasia, and parathyroid hypoplasia noted on postmortem examina...

journal_title：Human genetics

authors： Greenberg F,Crowder WE,Paschall V,Colon-Linares J,Lubianski B,Ledbetter DH

更新日期：1984-01-01 00:00:00

abstract：:In the present study, the possible role of genetic polymorphism of three drug-metabolizing enzymes, debrisoquine/sparteine hydroxylase (CYP2D6), glutathione S-transferase mu (GSTM1), and N-acetyltransferase (NAT2), as a putative genetic component of human longevity, was explored. A total of 817 DNA samples from a cent...

journal_title：Human genetics

authors： Muiras ML,Verasdonck P,Cottet F,Schächter F

更新日期：1998-05-01 00:00:00

abstract：:Chromosomal studies of the bone marrow and cultured peripheral blood cells in a 42-year-old female with the clinical and laboratory features typical for CML revealed a previously undescribed variant translocation involving chromosomes 12 and 22. ...

journal_title：Human genetics

authors： van der Blij-Philipsen M,Breed WP,Hustinx TW

更新日期：1977-11-10 00:00:00

abstract：:Two new cases of ring chromosome 15 are reported. A review of the nine cases described in the literature shows that ring chromosomes 15 are associated with a rather uniform phenotype characterized by slight to moderate mental retardation, marked pre- and postnatal growth failure, triangular face, and short hands and f...

journal_title：Human genetics

authors： Fryns JP,Timmermans J,Hondt FD,François B,Emmery L,van den Berghe H

更新日期：1979-09-02 00:00:00

abstract：:Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2, encoding methyl-CpG-binding protein 2 (MeCP2). As female somatic cells are mosaic for expression of mutant MECP2, we performed single cell cloning of T lymphocytes from four RTT patients with MECP2 mutations to isolat...

journal_title：Human genetics

authors： Balmer D,Arredondo J,Samaco RC,LaSalle JM

更新日期：2002-06-01 00:00:00

abstract：:Familial long QT syndrome (LQTS) is characterized by prolonged ventricular repolarization. Clinical symptoms include recurrent syncopal attacks, and sudden death may occur as a result of ventricular tachyarrhythmias. Three genes responsible for this syndrome (KVLQT1, HERG, and SCN5A) have been identified so far, and m...

journal_title：Human genetics

authors： Itoh T,Tanaka T,Nagai R,Kamiya T,Sawayama T,Nakayama T,Tomoike H,Sakurada H,Yazaki Y,Nakamura Y

更新日期：1998-04-01 00:00:00

abstract：:Steroid sulfatase activities are significantly higher in placentas obtained after the birth of girls than after the birth of boys, and also in female fibroblasts compared to male strains. This constitutes biochemical evidence for the non-inactivation of the X-linked sulfatase locus. No hydrolytic activity is found in ...

journal_title：Human genetics

authors： Bedin M,Weil D,Fournier T,Cedard L,Frezal J

更新日期：1981-01-01 00:00:00

abstract：:Eight polymorphic restriction enzyme sites at the phenylalanine hydroxylase (PAH) locus were analyzed from the parental chromosomes in 33 Danish nuclear families with at least one phenylketonuric (PKU) child. Determination of haplotypes of 66 normal chromosomes and 66 chromosomes bearing mutant allele(s) demonstrated ...

journal_title：Human genetics

authors： Chakraborty R,Lidsky AS,Daiger SP,Güttler F,Sullivan S,Dilella AG,Woo SL

更新日期：1987-05-01 00:00:00

abstract：:The genetic heterogeneity of severe von Willebrand disease (vWd) type III was estimated by analysing extended haplotypes of eleven intragenic restriction fragment length polymorphisms and one variable number of tandem repeat polymorphism in 32 patients from 28 families from Germany or of German origin. All patients we...

journal_title：Human genetics

authors： Schneppenheim R,Krey S,Bergmann F,Bock D,Budde U,Lange M,Linde R,Mittler U,Meili E,Mertes G

更新日期：1994-12-01 00:00:00

abstract：:Mutations in the human patched gene have recently been detected in patients with naevoid basal cell carcinoma syndrome. We have characterised a further 5 novel germ line mutations in patients presenting with multiple odontogenic keratocysts. Four mutations cause premature stop codons and one mutation results in an ami...

journal_title：Human genetics

authors： Lench NJ,Telford EA,High AS,Markham AF,Wicking C,Wainwright BJ

更新日期：1997-10-01 00:00:00

abstract：:Idiopathic basal ganglia calcification (IBGC) is characterised by radiological, neurological, cognitive and psychiatric abnormalities. The associations between these abnormal phenotypes and abnormal genes remain unclear despite the recent mapping to chromosome 14q of a susceptibility locus for IBGC ( IBGC1). We identi...

journal_title：Human genetics

authors： Brodaty H,Mitchell P,Luscombe G,Kwok JJ,Badenhop RF,McKenzie R,Schofield PR

更新日期：2002-01-01 00:00:00

abstract：:A male newborn with a ring 10 chromosome is described. The distal part of the long arm of chromosome 10, deleted during ring formation (10q25), is translocated to the short arm of chromosome 19. ...

journal_title：Human genetics

authors： Fryns JP,De Boeck K,Jaeken J,van den Berghe H

更新日期：1978-08-31 00:00:00