The SCARB1 gene is associated with lipid response to dietary and pharmacological interventions.

abstract：:X-linked recessive congenital motor nystagmus was identified in two Chinese families living in the Guangdong province of China. Nystagmus was noticed in early childhood. Only males in the families were affected and all obligate carriers did not have nystagmus. Linkage study was performed using microsatellite markers a...

journal_title：Journal of human genetics

authors： Guo X,Li S,Jia X,Xiao X,Wang P,Zhang Q

更新日期：2006-01-01 00:00:00

abstract：:Since mitochondria are energy-generating micro-organisms, most of the disorders in patients with mitochondrial diseases (mt-disease) are considered secondary to defects in ATP synthesis, although some other factors such as reactive oxygen species may be involved. A simultaneous oral administration of febuxostat and in...

journal_title：Journal of human genetics

authors： Kamatani N,Kushiyama A,Toyo-Oka L,Toyo-Oka T

更新日期：2019-04-01 00:00:00

abstract：:The identification of anticipation in schizophrenia is a recent focus in the genetic epidemiology of schizophrenia, although it involves some controversial methodological issues. We explored the evidence of anticipation among 44 Japanese two-generation pairs with schizophrenia found by reviewing nine years of admissio...

journal_title：Journal of human genetics

authors： Imamura A,Honda S,Nakane Y,Okazaki Y

更新日期：1998-01-01 00:00:00

abstract：:Hypercholesterolemia is caused by different interactions of lifestyle and genetic determinants. At the genetic level, it can be attributed to the interactions of multiple polymorphisms, or as in the example of familial hypercholesterolemia (FH), it can be the result of a single mutation. A large number of genetic mark...

journal_title：Journal of human genetics

authors： Alex L,Chahil JK,Lye SH,Bagali P,Ler LW

更新日期：2012-06-01 00:00:00

abstract：:Modern day Iran is strategically located in the tri-continental corridor uniting Africa, Europe and Asia. Several ethnic groups belonging to distinct religions, speaking different languages and claiming divergent ancestries inhabit the region, generating a potentially diverse genetic reservoir. In addition, past pre-h...

journal_title：Journal of human genetics

authors： Terreros MC,Rowold DJ,Mirabal S,Herrera RJ

更新日期：2011-03-01 00:00:00

abstract：:Cumulative data obtained from two relatively large pedigrees of a unique reciprocal chromosomal translocation (RCT) t(1;11)(p36.22;q12.2) ascertained by three miscarriages (pedigree 1) and the birth of newborn with hydrocephalus and myelomeningocele (pedigree 2) were used to estimate recurrence risks for different pre...

journal_title：Journal of human genetics

authors： Midro AT,Panasiuk B,Stasiewicz-Jarocka B,Olszewska M,Wiland E,Myśliwiec M,Kurpisz M,Shaffer LG,Gajecka M

更新日期：2014-12-01 00:00:00

abstract：:During the past decade, the search for pathogenic mutations in rare human genetic diseases has involved huge efforts to sequence coding regions, or the entire genome, using massively parallel short-read sequencers. However, the approximate current diagnostic rate is <50% using these approaches, and there remain many r...

journal_title：Journal of human genetics

authors： Mitsuhashi S,Matsumoto N

更新日期：2020-01-01 00:00:00

abstract：:Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disease with autosomal dominant transmission characterized by the presence of malformations of the big toes and of postnatal progressive heterotopic endochondral osteogenesis. We report the case of 3-year-old girl with dysplasia of the first metatarsal b...

journal_title：Journal of human genetics

authors： Lin GT,Chang HW,Liu CS,Huang PJ,Wang HC,Cheng YM

更新日期：2006-01-01 00:00:00

abstract：:Genetic factors, alone or in interaction with components of the diet, are thought to be involved in the development of the metabolic syndrome. The objective of our study was first to compare the frequency of the peroxisome proliferator-activated receptor (PPAR)alpha-L162V polymorphism in a sample of men with and witho...

journal_title：Journal of human genetics

authors： Robitaille J,Brouillette C,Houde A,Lemieux S,Pérusse L,Tchernof A,Gaudet D,Vohl MC

更新日期：2004-01-01 00:00:00

abstract：:Albright's hereditary osteodystrophy (AHO) is characterized by short stature, round face, calcifications, obesity, brachydactyly and intellectual disability. AHO without hormone resistance is called pseudopseudohypoparathyroidism (PPHP), a rare clinical condition difficult to diagnose with highly variable features. PP...

journal_title：Journal of human genetics

authors： Izzi B,de Zegher F,Francois I,del Favero J,Goossens D,Wittevrongel C,Thys C,Van Geet C,Freson K

更新日期：2012-04-01 00:00:00

abstract：:Infantile hypertrophic pyloric stenosis (IHPS) is a multifactorial heritable condition affecting infants in the first 3 months of life. It is characterized by hypertrophy of the pylorus resulting in blockage of the pyloric canal. Patients present with projectile vomiting, weight loss and dehydration. Five susceptibili...

journal_title：Journal of human genetics

authors： Everett KV,Chung EM

更新日期：2013-04-01 00:00:00

abstract：:Genetic testing for BRCA1/2 mutations has become the standard clinical practice. Recent findings suggest the clinical significance of multigene panel testing of BRCA1/2 and other cancer-related genes. However, the clinical features of patients with breast cancer with germline mutations identified using multigene panel...

journal_title：Journal of human genetics

authors： Hata C,Nakaoka H,Xiang Y,Wang D,Yang A,Liu D,Liu F,Zou Q,Wei L,Zheng K,Inoue I,You H

更新日期：2020-07-01 00:00:00

abstract：:The prefrontal cortex has been implicated in schizophrenia (SZ) and affective disorders by gene expression studies. Owing to reciprocal connectivity, the thalamic nuclei and their cortical fields act as functional units. Altered thalamic gene expression would be expected to occur in association with cortical dysfuncti...

journal_title：Journal of human genetics

authors： Chu TT,Liu Y,Kemether E

更新日期：2009-11-01 00:00:00

abstract：:alpha-1-Antichymotrypsin (ACT) is a plasma protease inhibitor belonging to the serpine superfamily; it has many functions. and thus qualitative change in ACT is likely to result in specific diseases. We previously reported a variant AACT (ACT Isehara-1, Met389Val, A1252G) in patients with ischemic cerebrovascular dise...

journal_title：Journal of human genetics

authors： Tachikawa H,Tsuda M,Onoe K,Ueno M,Takagi S,Shinohara Y

更新日期：2001-01-01 00:00:00

abstract：:Our mtDNA and Y chromosome studies lead to the conclusion that the Andamanese "Negrito" mtDNA lineages have survived in the Andaman Islands in complete genetic isolation from other South and Southeast Asian populations since the initial settlement of the region by the out-of-Africa migration. In order to obtain a robu...

journal_title：Journal of human genetics

authors： Thangaraj K,Chaubey G,Reddy AG,Singh VK,Singh L

更新日期：2006-01-01 00:00:00

abstract：:Premature ovarian failure (POF) is a disorder characterized by amenorrhea and elevated serum gonadotropins before 40 years of age. As X chromosomal abnormalities are often recognized in POF patients, defects of X-linked gene may contribute to POF. Four cases of POF with t(X;autosome) were genetically analyzed. All the...

journal_title：Journal of human genetics

authors： Nishimura-Tadaki A,Wada T,Bano G,Gough K,Warner J,Kosho T,Ando N,Hamanoue H,Sakakibara H,Nishimura G,Tsurusaki Y,Doi H,Miyake N,Wakui K,Saitsu H,Fukushima Y,Hirahara F,Matsumoto N

更新日期：2011-02-01 00:00:00

abstract：:We constructed a high-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the DiGeorge syndrome critical region 2 (DGCR2) gene at chromosome 22q11.2, a human counterpart of mouse seizure-related gene SEZ-12. A total of 102 SNPs were isolated from the region by systematic screening among 48 ...

journal_title：Journal of human genetics

authors： Iida A,Ohnishi Y,Ozaki K,Ariji Y,Nakamura Y,Tanaka T

更新日期：2001-01-01 00:00:00

abstract：:The classical transmission disequilibrium test (TDT) based on a trio design uses information only on the allele transmitted by a heterozygous parent at a marker locus as homozygous parents are non-informative about linkage. However, the phenotype of an offspring depends on the alleles transmitted by both parents, irre...

journal_title：Journal of human genetics

authors： Kulkarni H,Ghosh S

更新日期：2017-06-01 00:00:00

abstract：:Induction rates of the dicentrics and translocations involving chromosomes 2 and 4 in peripheral lymphocytes irradiated with X-rays at a dose of 3 Gy were examined using a conventional Giemsa staining method and a chromosome painting method. In total, 228 reciprocal exchanges detected in 982 metaphases were classified...

journal_title：Journal of human genetics

authors： Zhang W,Hayata I

更新日期：2003-01-01 00:00:00

abstract：:The Japanese Genetic Research Group for Eating Disorders (JGRED) is a multisite collaborative study group that was organized for the systematic recruitment of patients with an eating disorder for the purpose of genetic study in Japan. We conducted a genome-wide case-control association study using 23 465 highly polymo...

journal_title：Journal of human genetics

authors： Nakabayashi K,Komaki G,Tajima A,Ando T,Ishikawa M,Nomoto J,Hata K,Oka A,Inoko H,Sasazuki T,Japanese Genetic Research Group for Eating Disorders (JGRED).,Shirasawa S

更新日期：2009-09-01 00:00:00

abstract：:Germline mutations in the tumor suppressor genes BRCA1 and BRCA2 are responsible for a large proportion of familial breast cancer cases, and therefore, BRCA1 and BRCA2 genetic testing has become increasingly common in clinical practice. However, variants of uncertain significance (VUS) have been detected in 16.3% of J...

journal_title：Journal of human genetics

authors： Kawaku S,Sato R,Song H,Bando Y,Arinami T,Noguchi E

更新日期：2013-09-01 00:00:00

abstract：:Several epidemiological and genetic studies have suggested that the risk of type II diabetes (T2D) is likely to overlap with the susceptibility to psychotic disorders such as schizophrenia (SCZ) and bipolar disorder (BD). In this study, we aimed to examine the association of single-nucleotide polymorphisms (SNPs) dete...

journal_title：Journal of human genetics

authors： Kajio Y,Kondo K,Saito T,Iwayama Y,Aleksic B,Yamada K,Toyota T,Hattori E,Ujike H,Inada T,Kunugi H,Kato T,Yoshikawa T,Ozaki N,Ikeda M,Iwata N

更新日期：2014-01-01 00:00:00

abstract：:Childhood-onset schizophrenia (COS) is a rare form of schizophrenia with an onset before 13 years of age. There is rising evidence that genetic factors play a major role in COS etiology, yet, only a few single gene mutations have been discovered. Here we present a diagnostic whole-exome sequencing (WES) in an Israeli ...

journal_title：Journal of human genetics

authors： Alkelai A,Shohat S,Greenbaum L,Schechter T,Draiman B,Chitrit-Raveh E,Rienstein S,Dagaonkar N,Hughes D,Aggarwal VS,Heinzen EL,Shifman S,Goldstein DB,Kohn Y

更新日期：2021-03-01 00:00:00

abstract：:X-linked inheritance is very rare and is estimated to account for only 1-5% of all nonsyndromic hearing loss cases. We found a multiplex family from China segregating with X-linked nonsyndromic hearing loss. After exclusive analysis of 10 common variations of three hearing loss-related genes, GJB2, mtDNA12srRNA and SL...

journal_title：Journal of human genetics

authors： Deng Y,Niu Z,Fan L,Ling J,Chen H,Cai X,Mei L,He C,Zhang X,Wen J,Li M,Li W,Li T,Sang S,Liu Y,Feng Y

更新日期：2018-06-01 00:00:00

abstract：:Genome-wide association studies (GWAS) are being conducted to identify common genetic variants that predispose to human diseases to unravel the genetic etiology of complex human diseases now. Because of genotyping cost constraints, it often follows a two-stage design, in which a large number of markers are identified ...

journal_title：Journal of human genetics

authors： Kang G,Zuo Y

更新日期：2007-01-01 00:00:00

abstract：:mRNA is an important tool to study the effects of particular mutations on the mode of splicing and transcripts. However, it is often difficult to isolate mRNA because the organ or tissue in which the gene is expressed cannot be sampled. We previously identified two probable splicing mutations (c.6485+5G>A and c.8559-2...

journal_title：Journal of human genetics

authors： Nakanishi H,Ohtsubo M,Iwasaki S,Hotta Y,Mizuta K,Mineta H,Minoshima S

更新日期：2010-10-01 00:00:00

abstract：:Recently, haplotype-based association studies have become popular for detecting disease-related or drug-response-associated genes. In these studies, it has been gradually recognized that a haplotype block structure is important. A rational and automatic method for identifying the haplotype block structure from SNP dat...

journal_title：Journal of human genetics

authors： Fujisawa H,Isomura M,Eguchi S,Ushijima M,Miyata S,Miki Y,Matsuura M

更新日期：2007-01-01 00:00:00

abstract：:Defects in the mitochondrial translation apparatus can impair energy production in affected tissues and organs. Most components of this apparatus are encoded by nuclear genes, including GFM2, which encodes a mitochondrial ribosome recycling factor. A few patients with mutations in some of these genes have been reporte...

journal_title：Journal of human genetics

authors： Fukumura S,Ohba C,Watanabe T,Minagawa K,Shimura M,Murayama K,Ohtake A,Saitsu H,Matsumoto N,Tsutsumi H

更新日期：2015-09-01 00:00:00

abstract：:We have performed a comprehensive analysis of gene-expression profiles in human articular cartilage (hyaline cartilage) and meniscus (fibrocartilage) by means of a cDNA microarray consisting of 23,040 human genes. Comparing the profiles of the two types of cartilage with those of 29 other normal human tissues identifi...

journal_title：Journal of human genetics

authors： Ochi K,Daigo Y,Katagiri T,Saito-Hisaminato A,Tsunoda T,Toyama Y,Matsumoto H,Nakamura Y

更新日期：2003-01-01 00:00:00

abstract：:MEIS2 aberrations are considered to be the cause of intellectual disability, cleft palate and cardiac septal defect, as MEIS2 copy number variation is often observed with these phenotypes. To our knowledge, only one nucleotide-level change-specifically, an in-frame MEIS2 deletion-has so far been reported. Here, we rep...

journal_title：Journal of human genetics

authors： Fujita A,Isidor B,Piloquet H,Corre P,Okamoto N,Nakashima M,Tsurusaki Y,Saitsu H,Miyake N,Matsumoto N

更新日期：2016-09-01 00:00:00