The apolipoprotein (a) gene: a transcribed hypervariable locus controlling plasma lipoprotein (a) concentration.

abstract：:Dystrophin mRNA transcripts from the P (Purkinje) promoter were shown to be differentially expressed in human skeletal muscle, heart, and brain. The expression pattern was characteristic of tissue type and developmental stage. Polymerase chain reaction (PCR) analysis of the P promoter transcripts in adult skeletal mus...

journal_title：Human genetics

authors： Holder E,Maeda M,Bies RD

更新日期：1996-02-01 00:00:00

abstract：:Metabolic syndrome is a complex human disorder characterized by a cluster of conditions (increased blood pressure, hyperglycemia, excessive body fat around the waist, and abnormal cholesterol or triglyceride levels). Any of these conditions increases the risk of serious disorders such as diabetes or cardiovascular dis...

journal_title：Human genetics

authors： Graziano F,Biino G,Bonati MT,Neale BM,Do R,Concas MP,Vaccargiu S,Pirastu M,Terradura-Vagnarelli O,Cirillo M,Laurenzi M,Mancini M,Zanchetti A,Grassi M

更新日期：2019-07-01 00:00:00

abstract：:Three common alleles, epsilon2, epsilon3, and epsilon4, of the gene coding for apolipoprotein E (apoE) have been identified as predictors of interindividual variation in measures of lipid and lipoprotein metabolism, and ultimately risk of coronary heart disease (CHD), within many populations. Here we evaluated the uti...

journal_title：Human genetics

authors： Stengård JH,Weiss KM,Sing CF

更新日期：1998-08-01 00:00:00

abstract：:Six polymorphic restriction enzyme sites in the beta-globin gene cluster were investigated in Yanomama Indians from the Amazon region of Brazil, using the polymerase chain reaction (PCR) technique. Four haplotypes were identified; the haplotype frequency distribution is similar to those reported for Polynesians, Micro...

journal_title：Human genetics

authors： Guerreiro JF,Figueiredo MS,Santos SE,Zago MA

更新日期：1992-08-01 00:00:00

abstract：:The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission. ...

journal_title：Human genetics

authors： Fukushima N,Anakura M,Arashima S,Matsuda I,Ohsawa T

更新日期：1976-05-19 00:00:00

abstract：:Complement component 3 (C3) is the central molecule of the complement system. It displays a number of polymorphic variants with, as yet, unclear functional consequences. We have investigated a number of rare C3 variants by PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) analysis and could ...

journal_title：Human genetics

authors： Höhler T,Botto M,Rittner C,Schneider PM,Meyer zum Büschenfelde KH

更新日期：1995-11-01 00:00:00

abstract：:We ascertained three consanguineous Pakistani families (PKDF291, PKDF335 and PKDF793) segregating nonsyndromic recessive hearing loss. The hearing loss segregating in PKDF335 and PKDF793 is moderate to severe, whereas it is profound in PKDF291. The maximum two-point LOD scores are 3.01 (D19S1034), 3.85 (D19S894) and 3...

journal_title：Human genetics

authors： Ain Q,Nazli S,Riazuddin S,Jaleel AU,Riazuddin SA,Zafar AU,Khan SN,Husnain T,Griffith AJ,Ahmed ZM,Friedman TB,Riazuddin S

更新日期：2007-12-01 00:00:00

abstract：:A reliable technique for staining human chromosomal nucleolar organizers (NOR's) with silver solutions is described. The NOR's can be selectively stained dark brown by silver solutions leaving the chromosome arms unstained and available for counterstaining with orcein or Giemsa dyes. Unequivocal identification of chro...

journal_title：Human genetics

authors： Bloom SE,Goodpasture C

更新日期：1976-10-28 00:00:00

abstract：:A dermatoglyphic analysis of the hands of 16 patients with trisomy for the short arm of chromosome 4 has revealed an increased frequency of whorl patterns on fingertips, presence of axial triradii in position t' on palms and an increase of the main line index. Although of little diagnostic value these changes must be ...

journal_title：Human genetics

authors： Mastroiacovo P,Currò V,Calabro A,Dallapiccola B

更新日期：1976-12-15 00:00:00

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：:Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial arch anomalies, hearing loss and renal dysmorphology. Although haploinsufficiency of EYA1 and SIX1 are known to cause BOR, copy number variation analysis has only been performed on a limited number of BOR patients. In this s...

journal_title：Human genetics

authors： Brophy PD,Alasti F,Darbro BW,Clarke J,Nishimura C,Cobb B,Smith RJ,Manak JR

更新日期：2013-12-01 00:00:00

abstract：:This paper describes two families in which four boys and two girls were affected with geroderma osteodysplastica. The major features of this syndrome include a droopy, jowly, prematurely aged appearance that has been likened by previous authors to the dwarfs in Walt Disney's 'Snow White.' Also, their skin lacks normal...

journal_title：Human genetics

authors： Hunter AG,Martsolf JT,Baker CG,Reed MH

更新日期：1978-02-16 00:00:00

abstract：:The cell morphology of long-term cultures of amniotic fluid cells from 10 fetuses with a neural tube defect (NTD) and three with omphalocele was examined and compared to 30 long-term cultures of normal amniotic fluids as well as a long-term culture of human fetal brain. Cultures from the amniotic fluids of the fetuses...

journal_title：Human genetics

authors： Medina-Gómez P,Johnston TH

更新日期：1982-01-01 00:00:00

abstract：:The X chromosomes of individuals with isolated steroid sulphatase deficiency (X-linked ichthyosis) from ten families were studied by flow karyotype analysis. In four of the families, a small but significant reduction in the relative fluorescence of the X chromosome was detected consistent with a deletion ranging from ...

journal_title：Human genetics

authors： Cooke A,Gillard EF,Yates JR,Mitchell MJ,Aitken DA,Weir DM,Affara NA,Ferguson-Smith MA

更新日期：1988-05-01 00:00:00

abstract：:Severe combined immunodeficiency (SCID) is caused by a variety of underlying defects. Approximately 40% of cases are thought to be of the X-linked type (SCIDX1), which is phenotypically characterised by the absence, or very low numbers, of T cells, but normal or even high B cell numbers. The gene responsible for SCIDX...

journal_title：Human genetics

authors： Jones AM,Clark PA,Katz F,Genet S,McMahon C,Alterman L,Cant A,Kinnon C

更新日期：1997-05-01 00:00:00

abstract：:Citrullinemia is an autosomal recessive disorder caused by a genetic deficiency of argininosuccinate synthetase (ASS). So far 20 mutations in ASS mRNA have been identified in human classical citrullinemia, including 14 single base changes causing missense mutations in the coding sequence of the enzyme, 4 mutations ass...

journal_title：Human genetics

authors： Kobayashi K,Kakinoki H,Fukushige T,Shaheen N,Terazono H,Saheki T

更新日期：1995-10-01 00:00:00

abstract：:Since nine patients with infantile liver cirrhosis or hepatopathy associated with the Pi ZZ phenotype had been observed in recent years in the Children's Hospital of the University of Innsbruck, Tyrol, the distribution of the Pi types and the PiM subtypes was determined in the Tyrolean population. Apparently healthy b...

journal_title：Human genetics

authors： Böhme A,Cleve H,Schönitzer D,Reissigl H,Kazda S,Müller W

更新日期：1983-01-01 00:00:00

abstract：:21-hydroxylase (21-OH) deficiency accounts for the vast majority of nonclassic (NC) forms of congenital adrenal hyperplasia (CAH), and is associated with symptoms detectable either in childhood (precocious puberty) or sometimes only later in adulthood (hirsutism, acne, amenorrhea). While the severe forms of the diseas...

journal_title：Human genetics

authors： Blanché H,Vexiau P,Clauin S,Le Gall I,Fiet J,Mornet E,Dausset J,Bellanné-Chantelot C

更新日期：1997-11-01 00:00:00

abstract：:Using the polymerase chain reaction, a sequence comprising 400bp of the human ZFY gene was amplified specifically in the male. The method allows detection of the presence of the ZFY gene in the order of 1:10(4) cells. ...

journal_title：Human genetics

authors： Ebensperger C,Studer R,Epplen JT

更新日期：1989-06-01 00:00:00

abstract：:X-linked hydrocephalus (HSAS) is the most common form of inherited hydrocephalus characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, mental retardation, clasped thumbs, and spastic paraparesis. MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) and SPG1 (X-linked com...

journal_title：Human genetics

authors： Takechi T,Tohyama J,Kurashige T,Maruta K,Uyemura K,Ohi T,Matsukura S,Sakuragawa N

更新日期：1996-03-01 00:00:00

abstract：:Steroid sulfatase (STS) activities in female fibroblast strains are significantly higher than in male strains, as determined by cleavage of dehydroepiandrosterone sulfate. The difference is probably not due to hormonal control of gene expression, but suggests that for this X-linked locus there is no gene dosage compen...

journal_title：Human genetics

authors： Müller CR,Migl B,Traupe H,Ropers HH

更新日期：1980-01-01 00:00:00

abstract：:To elucidate genetic abnormalities in type I CD36 deficiency, we analyzed 28 Japanese subjects whose platelets and monocytes/macrophages lacked CD36 on their surface. We identified two novel mutations in the CD36 gene. One was a complex deletion/insertion mutation, in which 3 bp, GAG, were deleted at nucleotide (nt) 8...

journal_title：Human genetics

authors： Kashiwagi H,Tomiyama Y,Nozaki S,Kiyoi T,Tadokoro S,Matsumoto K,Honda S,Kosugi S,Kurata Y,Matsuzawa Y

更新日期：2001-06-01 00:00:00

abstract：:A single-strand conformational polymorphism found in the DNA of a patient with neurofibromatosis 1 (NF1) was shown to be caused by a deletion of a CCACC or CACCT sequence and an adjacent transversion, located about 500 base pairs downstream from the region that codes for a functional domain of the NF1 gene product. Th...

journal_title：Human genetics

authors： Stark M,Assum G,Krone W

更新日期：1991-10-01 00:00:00

abstract：:Leprosy is caused by infection with Mycobacterium leprae and is classified clinically into paucibacillary (PB) or multibacillary (MB) subtypes based on the number of skin lesions and the bacillary index detected in skin smears. We previously identified a major PB susceptibility locus on chromosome region 10p13 in Viet...

journal_title：Human genetics

authors： Grant AV,Cobat A,Van Thuc N,Orlova M,Huong NT,Gaschignard J,Alter A,Ba NN,Thai VH,Abel L,Alcaïs A,Schurr E

更新日期：2014-07-01 00:00:00

abstract：:Research in the past two decades has generated unequivocal evidence that host genetic variations substantially account for the heterogeneous outcomes following human immunodeficiency virus type 1 (HIV-1) infection. In particular, genes encoding human leukocyte antigens (HLA) have various alleles, haplotypes, or specif...

journal_title：Human genetics

authors： Li X,Price MA,He D,Kamali A,Karita E,Lakhi S,Sanders EJ,Anzala O,Amornkul PN,Allen S,Hunter E,Kaslow RA,Gilmour J,Tang J,IAVI Africa HIV Prevention Partnership.

更新日期：2014-09-01 00:00:00

abstract：:The motor neuron diseases (MND) are a group of related neurodegenerative diseases that cause the relative selective progressive death of motor neurons. These diseases range from slowly progressive forms including hereditary motor neuropathy (HMN), to the rapidly progressive disorder amyotrophic lateral sclerosis (ALS)...

journal_title：Human genetics

authors： Gopinath S,Blair IP,Kennerson ML,Durnall JC,Nicholson GA

更新日期：2007-06-01 00:00:00

abstract：:Postprandial triglyceridemia is an emerging risk factor for cardiovascular disease. However, most of the genes that influence postprandial triglyceridemia are not known. We evaluated whether a common nonsynonymous SNP rs1260326/P446L in the glucokinase regulatory protein (GCKR) gene influenced variation in the postpra...

journal_title：Human genetics

authors： Shen H,Pollin TI,Damcott CM,McLenithan JC,Mitchell BD,Shuldiner AR

更新日期：2009-10-01 00:00:00

abstract：:Extremely rare diseases are increasingly recognized due to wide-spread, inexpensive genomic sequencing. Understanding the incidence of rare disease is important for appreciating its health impact and allocating recourses for research. However, estimating incidence of rare disease is challenging because the individual ...

journal_title：Human genetics

authors： Bainbridge MN

更新日期：2020-05-01 00:00:00

abstract：:High resolution cytogenetics, microsatellite marker analyses, and fluorescence in situ hybridization were used to define Xq deletions encompassing the fragile X gene, FMR1, detected in individuals from two unrelated families. In Family 1, a 19-year-old male had facial features consistent with fragile X syndrome; howev...

journal_title：Human genetics

authors： Wolff DJ,Gustashaw KM,Zurcher V,Ko L,White W,Weiss L,Van Dyke DL,Schwartz S,Willard HF

更新日期：1997-08-01 00:00:00

abstract：:We investigated whether a G123-->A mutation causing a Gly40-->Ser substitution in exon 2 of the human glucagon receptor gene, which has been reported to be associated with non-insulin-dependent diabetes mellitus (NIDDM) and impaired glucose tolerance (IGT) in France and Sardinia with a prevalences as high as 4.6% and ...

journal_title：Human genetics

authors： Odawara M,Tachi Y,Yamashita K

更新日期：1996-12-01 00:00:00