Abstract:
:Two novel missense mutations, 1939G to A (R518Q) and 2017A to G (Q544R) were identified in Japanese patients with adrenoleukodystrophy (ALD). They are located in exon 6, which encodes part of the putative adenosine triphosphate binding domain of ALD protein. The ALD protein carrying the R518Q mutation was undetectable in fibroblasts, by immunoblot and immunofluorescence analysis, while the Q544R mutation had no apparent effect on the stability and localization of the ALD protein, but is expected to affect its function.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Imamura A,Suzuki Y,Song XQ,Fukao T,Uchiyama A,Shimozawa N,Kamijo K,Hashimoto T,Orii T,Kondo Ndoi
10.1111/j.1399-0004.1997.tb02481.xsubject
Has Abstractpub_date
1997-05-01 00:00:00pages
322-5issue
5eissn
0009-9163issn
1399-0004journal_volume
51pub_type
杂志文章abstract::Alzheimer's Disease (AD) is a devastating disease that affects millions of elderly persons. Despite years of intense investigations, genetic risk factors that affect the majority of AD cases have yet to be determined. Recent studies suggest that cholesterol metabolism has integral part in AD pathogenesis, suggesting t...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.0009-9163.2004.00280.x
更新日期:2004-07-01 00:00:00
abstract::Mutations in the insulin receptor gene have been reported in cases of type A insulin resistance. We report herein two cases of type A insulin resistance, which involve some novel mutations. Case 1 is a heterozygote of the C253Y missense mutation and case 2 is a heterozygote of the Y864X nonsense mutation. In the C253Y...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2001.590309.x
更新日期:2001-03-01 00:00:00
abstract::The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. We report on a male patient with the clinical features of the syndrome. In addition, he had a Dandy-Walker...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1993.tb03823.x
更新日期:1993-06-01 00:00:00
abstract::Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies. Both autosomal dominant and autosomal recessive patterns of inheritance have been reported. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12401
更新日期:2015-01-01 00:00:00
abstract::Chromosome displays and listings are presented showing loci whose position is known in both man and mouse, in similar manner to our previous report (Dalton et al. 1981). There is now evidence for at least 27 conserved autosomal segments with two or more loci in the two species. The human and mouse chromosome maps show...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb00780.x
更新日期:1984-07-01 00:00:00
abstract::SLC25A42 gene encodes an inner mitochondrial membrane protein that imports Coenzyme A into the mitochondrial matrix. A mutation in this gene was recently reported in a subject born to consanguineous parents who presented with mitochondrial myopathy with muscle weakness and lactic acidosis. In this report, we present 1...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13210
更新日期:2018-05-01 00:00:00
abstract::A report is made on a rare isodicentric chromosome 18 in an abnormal male infant whose karyotype was 46,XY,idic(18)(p11.31----qter), confirmed by in situ hybridization using non-radioactive biotin-labelled 18 probe. His clinical features were similar to 18 trisomy syndrome. The literature concerning isochromosome 18 i...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:
更新日期:1992-05-01 00:00:00
abstract::Biallelic mutations in the PLCB1 gene, encoding for a phospholipase C beta isoform strongly expressed in the brain, have been reported to cause infantile epileptic encephalopathy in only four children to date. We report here three additional patients to delineate the phenotypic and genotypic characteristics of the dis...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13696
更新日期:2020-03-01 00:00:00
abstract::Lipoprotein(a) [Lp(a)] is an important genetic trait associated with cardiovascular disease. While Lp(a) levels have been demonstrated to be approximately twice as high in black adults and children compared with whites, this relationship has not been assessed in the elderly. During the 1987 recall of the Charleston He...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1993.tb03887.x
更新日期:1993-11-01 00:00:00
abstract::From a large Danish material of random families we selected families with dyslexia as reported by the families themselves and as recorded by a dyslexia institute. Among five "backcross families" studied for chromosome 15 polymorphisms we found only negative lod scores, and at theta = 0.10 a negative score of -3.42; i....
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb03337.x
更新日期:1987-08-01 00:00:00
abstract::Chromosome analysis of G-banded cells from 92 individuals consecutively referred to the Cytogenetics Laboratory show that the paracentromeric band in the short arm (6p11), which stains negatively with G-banding and darkly with C-banding, shows a marked increase in size in about 9% of chromosome no. 6. The results of t...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1979.tb01761.x
更新日期:1979-02-01 00:00:00
abstract::A sibship is reported of three generations of a Jordanian family of normal intelligence with a complex malformation of upper extremity, shoulder and thorax, which is combined with variously expressed congenital heart disease. The deformity consists of a flat glenoid fossa, a hypoplastic scapula, aplasia of the humerus...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1989.tb03374.x
更新日期:1989-12-01 00:00:00
abstract::Mitochondrial disorders (MDs) are caused by defects in 1 or multiple complexes of the oxidative phosphorylation (OXPHOS) machinery. MDs are associated with a broad range of clinical signs and symptoms, and have considerable clinical overlap with other neuromuscular syndromes. This overlap might be due to involvement o...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.13094
更新日期:2018-05-01 00:00:00
abstract::Steatocystoma Multiplex (S.M.) is an inherited condition characterized by the appearance of cysts during the first or second decade of life. Familial cases have occasionally been reported. We studied 13 patients affected by S.M. from two unrelated families, focusing our attention on HLA, Gm and Km genotypes and on chr...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1989.tb03176.x
更新日期:1989-08-01 00:00:00
abstract::A family is reported with an autosomal dominant inherited syndrome presenting some of the typical features of the tricho-rhino-phalangeal syndrome type II (TRP II) or Langer-Giedion syndrome. The critical region for the expression of the syndrome seems to be at band 8q24.1. In the affected members of the family report...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1985.tb02045.x
更新日期:1985-06-01 00:00:00
abstract::The clinical impact of duplications affecting the 11p15.5 region is difficult to predict, and depends on the parent-of-origin of the affected allele as well as on the type (deletion, duplication), the extent and genomic content of the variant. Three unrelated families with inheritance of duplications affecting the IC1...
journal_title:Clinical genetics
pub_type: 信件
doi:10.1111/cge.13820
更新日期:2020-10-01 00:00:00
abstract::Lymphoblastoid cell lines have been established from nine female patients with Duchenne muscular dystrophy who had previously been reported to have chromosome translocations with breakpoints in the Xp21 region. A detailed cytogenetic comparison of prometaphase chromosomes in these cell lines revealed that six of the t...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb01232.x
更新日期:1986-02-01 00:00:00
abstract::Mitotic chromosome analyses performed on 820 infertile men revealed 60 (7.3%) men with some kind of chromosomal abnormality. Sex chromosomal abnormalities were detected in 28 (3.4%) and autosomal translocations in 9 (1.0%). Pericentric inversions of chromosome 9, with possible adverse effect on reproduction, was found...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb00459.x
更新日期:1984-01-01 00:00:00
abstract::Endothelin is a peptide reported to be one of the most potent vasoconstrictors known. Presumably, endothelin could play a role in the physiological regulation of blood pressure in healthy or hypertensive people. We have studied a normal restriction fragment length polymorphism (RFLP) at the endothelin-I (EDN1) locus d...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03640.x
更新日期:1992-02-01 00:00:00
abstract::Therapeutic abortions were performed in two cases of spina bifida which were diagnosed by determination of the lafa fetoprotein levels in the amniotic fluid and maternal serum. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1975.tb00315.x
更新日期:1975-02-01 00:00:00
abstract::A family with three children with Waardenburg syndrome born to normal, unrelated parents is reported. This appears to be the first report suggesting germ-line mosaicism in Waardenburg syndrome. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1991.tb03011.x
更新日期:1991-03-01 00:00:00
abstract::GNE myopathy or hereditary inclusion body myopathy (HIBM) is an ultra-rare severely disabling autosomal recessive adult onset muscle disease which affects roughly one to three individuals per million worldwide. Genetically, HIBM is caused by mutations in the glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine k...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12086
更新日期:2013-12-01 00:00:00
abstract::The von Hippel Lindau (VHL) syndrome is an inherited multi-tumour disorder characterised by clinical heterogeneity and high penetrance. The VHL gene has been shown to be a tumour-suppressor gene. A carrier of a germline mutation will be predisposed to a high variety of benign and malign tumours affecting different org...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.1999.560305.x
更新日期:1999-09-01 00:00:00
abstract::Heterozygotes of autosomal-recessive diseases can often be recognized by special heterozygote tests, since enzyme activities are normally reduced in comparison with the normal homozygote state. In Drosophila, the majority of recessive lethal mutations shows a reduction of fitness in heterozygotes, whereas in a strong ...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:
更新日期:1984-05-01 00:00:00
abstract::To determine the mutations of Southern Chinese with Duchenne and Becker muscular dystrophies (DMD, BMD), we analysed 28 DMD and BMD patients in 24 unrelated families for intragenic deletions and duplications by using cDNA probes covering the entire 14 kb of the dystrophin gene. Deletions were detected in nine unrelate...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03676.x
更新日期:1992-05-01 00:00:00
abstract::Women who carry fragile X mental retardation 1 (FMR1)gene premutation expansions frequently report neurological or endocrine symptoms and prior studies have predominantly focused on questionnaire report of medical issues. Premutation carrier (PMC) women (n = 33) and non-carrier controls (n = 13) were recruited and eva...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12646
更新日期:2016-01-01 00:00:00
abstract::HLA-A and -B alleles in 74 Danish patients and 21 homozygous relatives with idiopathic haemochromatosis (IH) were compared with those in a sample of 1719 chromosomes from healthy Danish control subjects. The following alleles occurred with higher frequencies in IH compared to controls: A3: 53.6% vs. 15.1% (Pc less tha...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03619.x
更新日期:1992-01-01 00:00:00
abstract::Bardet-Biedl syndrome (BBS) is a rare pediatric ciliopathy characterized by marked clinical variability and extensive genetic heterogeneity. Typical diagnosis of BBS is secured at a median of 9 years of age, and sometimes well into adolescence. Here, we report a patient in whom prenatal detection of increased nuchal f...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12022
更新日期:2013-06-01 00:00:00
abstract::Congenital heart disease is the commonest malformation in humans and contributes greatly to the burden of disease in infancy. Increasingly, developmental origins are also implicated in heart disease in adults. Significant advances have been made over the past decade in elucidating morphogenetic events of heart formati...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.2008.01009.x
更新日期:2008-06-01 00:00:00
abstract::Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal-recessive autoimmune disease caused by autoimmune regulator gene mutations. The aim of this study was to examine the mutation profile of Polish APECED patients, determine the carrier rate of the most frequent mutation(s) and estima...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2006.00690.x
更新日期:2006-10-01 00:00:00