A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers.

abstract：:Genome-wide association studies and integrative genomics approaches have demonstrated significant associations between chronic obstructive pulmonary disease (COPD) and single-nucleotide polymorphisms (SNPs) in the chromosome 15q25 region that includes iron-responsive element binding protein 2 gene (IREB2) and CHRNA3/5...

journal_title：Journal of human genetics

authors： Zhou H,Yang J,Li D,Xiao J,Wang B,Wang L,Ma C,Xu S,Ou X,Feng Y

更新日期：2012-11-26 00:00:00

abstract：:Bradycardia is a trigger of ventricular arrhythmias in patients with arrhythmia including Brugada syndrome and long QT syndrome. The HCN4 channel controls the heart rate, and its mutations predispose to inherited sick sinus syndrome and long QT syndrome associated with bradycardia. We found a 4 base-insertion at the s...

journal_title：Journal of human genetics

authors： Ueda K,Hirano Y,Higashiuesato Y,Aizawa Y,Hayashi T,Inagaki N,Tana T,Ohya Y,Takishita S,Muratani H,Hiraoka M,Kimura A

更新日期：2009-02-01 00:00:00

abstract：:With congenital central hypoventilation syndrome (CCHS), most patients have a de novo 5-13 polyalanine expansion mutation in PHOX2B. We reported previously that de novo polyalanine expansion mutations were of paternal origin and were derived from unequal sister chromatid exchange during spermatogenesis in six and four...

journal_title：Journal of human genetics

authors： Arai H,Otagiri T,Sasaki A,Umetsu K,Hayasaka K

更新日期：2010-01-01 00:00:00

abstract：:Spinocerebellar ataxias (SCAs) are a heterogeneous group of disorders with almost 30 subtypes. The prevalence and relative frequency of each subtype vary among different populations. In this article, we report the relative frequency of six SCA subtypes in the Thai population and attempt to explain the observed pattern...

journal_title：Journal of human genetics

authors： Sura T,Eu-Ahsunthornwattana J,Youngcharoen S,Busabaratana M,Dejsuphong D,Trachoo O,Theerasasawat S,Tunteeratum A,Noparutchanodom C,Tunlayadechanont S

更新日期：2009-05-01 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：:Vinyl chloride (VC) is a human carcinogen known to undergo metabolism by cytochrome P450 2E1 (CYP2E1) to reactive intermediates that can cause oncogene and tumor suppressor gene mutations and that are further metabolized by acetaldehyde dehydrogenase (ALDH2) and glutathione-S-transferases (GSTs) to non-mutagenic end p...

journal_title：Journal of human genetics

authors： Schindler J,Li Y,Marion MJ,Paroly A,Brandt-Rauf PW

更新日期：2007-01-01 00:00:00

abstract：:PlexinA is a neuronal receptor protein that facilitates axon guidance during embryogenesis. This gene is associated with several neurological disorders including Alzheimer's disease, Parkinson's disease and autism. However, the effect of variants of PlexinA on brain structure remains unclear. We demonstrate that singl...

journal_title：Journal of human genetics

authors： Belyk M,Kraft SJ,Brown S,Pediatric Imaging, Neurocognition and Genetics Study.

更新日期：2015-03-01 00:00:00

abstract：:Increased pulse pressure (PP) and decreased mean arterial pressure (MAP) are strong prognostic predictors of adverse cardiovascular events. Recently, the International Consortium for Blood Pressure Genome-Wide Association Studies (ICBP-GWAS) reported eight loci that influenced PP and MAP. The ICBP-GWAS examined 51 coh...

journal_title：Journal of human genetics

authors： Hong KW,Min H,Heo BM,Joo SE,Kim SS,Kim Y

更新日期：2012-06-01 00:00:00

abstract：:Interstitial deletion of 7q11.23-q21.11 was identified by cytogenetic methods in a 4-year-old boy with Williams syndrome (WS) and infantile spasms. Deletion of the elastin (ELN) gene and the DNA polymorphic markers, D7S1870, D7S2490, D7S2518, and D7S2421, were identified in the patient, but the loci for D7S653 and D7S...

journal_title：Journal of human genetics

authors： Mizugishi K,Yamanaka K,Kuwajima K,Kondo I

更新日期：1998-01-01 00:00:00

abstract：:We report the identification of a loss-of-function -11C>T promoter mutation in the gene encoding the sterol regulatory element binding protein cleavage-activating protein (SCAP). The -11T allele was associated with a marked reduction in promoter activity in a luciferase-based expression system. We also report addition...

journal_title：Journal of human genetics

authors： Cao H,Miskie BA,Hegele RA

更新日期：2002-01-01 00:00:00

abstract：:Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive lung disease that is refractory to treatment and carries a high mortality rate. IPF is frequently associated with lung cancer. Identification of molecular targets involved in both diseases may elucidate novel molecular mechanisms contributing to their patho...

journal_title：Journal of human genetics

authors： Kamikawaji K,Seki N,Watanabe M,Mataki H,Kumamoto T,Takagi K,Mizuno K,Inoue H

更新日期：2016-12-01 00:00:00

abstract：:Southeast Asian ovalocytosis (SAO) is a red blood cell abnormality common in malaria-endemic regions and caused by a 27 nt deletion of the band 3 protein gene. Since band 3 protein, also known as anion exchanger 1, is expressed in renal distal tubules, the incidence of SAO was examined in distal renal tubular acidosis...

journal_title：Journal of human genetics

authors： Yusoff NM,Van Rostenberghe H,Shirakawa T,Nishiyama K,Amin N,Darus Z,Zainal N,Isa N,Nozu H,Matsuo M

更新日期：2003-01-01 00:00:00

abstract：:Although many studies have been performed to identify mutations in Korean patients with various autosomal-recessive Mendelian disorders (AR-MDs), little is known about the carrier frequencies of AR-MDs in the Korean population. Twenty common mutations from six AR-MDs, including Wilson disease (WD), non-syndromic heari...

journal_title：Journal of human genetics

authors： Song MJ,Lee ST,Lee MK,Ji Y,Kim JW,Ki CS

更新日期：2012-02-01 00:00:00

abstract：:A wide range of phenotypes have been reported in autosomal recessive (AR) Charcot-Marie-Tooth disease (CMT) patients carrying mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene, such as axonal, demyelinating, and intermediate forms of AR CMT. There have been very few reports of GDAP...

journal_title：Journal of human genetics

authors： Chung KW,Kim SM,Sunwoo IN,Cho SY,Hwang SJ,Kim J,Kang SH,Park KD,Choi KG,Choi IS,Choi BO

更新日期：2008-01-01 00:00:00

abstract：:The differential transmission of alleles from parents to affected children indicates that the locus under investigation is either directly involved in the occurrence of the disease or that there are allelic associations with other loci that are directly involved. Conditional logistic regression applied to a diallelic ...

journal_title：Journal of human genetics

authors： Ayres KL,Curnow RN

更新日期：2005-01-01 00:00:00

abstract：:The current understanding of the genetic architecture of lipids has largely come from genome-wide association studies (GWAS). To date, few GWAS have examined the genetic architecture of lipids in Polynesians, and none have in Samoans, whose unique population history, including many population bottlenecks, may provide ...

journal_title：Journal of human genetics

authors： Carlson JC,Weeks DE,Hawley NL,Sun G,Cheng H,Naseri T,Reupena MS,Tuitele J,Deka R,McGarvey ST,Minster RL

更新日期：2021-02-01 00:00:00

abstract：:Factors predisposing to the phenotypic features of familial combined hyperlipidemia have not been clearly defined. In the course of investigating familial coronary artery disease in Utah, we identified a three-generation family in which multiple members were affected with type IIa hyperlipoproteinemia (HLP IIa), type ...

journal_title：Journal of human genetics

authors： Wu LL,Hopkins PN,Xin Y,Stephenson SH,Williams RR,Nobe Y,Kajita M,Nakajima T,Emi M

更新日期：2000-01-01 00:00:00

abstract：:MicroRNAs (miRNAs) are endogenous non-coding RNAs that function as negative regulators of gene expression. Alterations in miRNA expression have been shown to affect tumor growth and response to chemotherapy. In this study, we explored the possible role of miRNAs in cisplatin resistance in esophageal squamous cell carc...

journal_title：Journal of human genetics

authors： Imanaka Y,Tsuchiya S,Sato F,Shimada Y,Shimizu K,Tsujimoto G

更新日期：2011-04-01 00:00:00

abstract：:Mutation analysis of the PDS gene and the EYA1 gene, which are reported to be responsible for hearing loss associated with ear anomalies, was performed in 24 deaf patients with various middle and inner ear anomalies. The present study was done to clarify the spectrum of middle and inner ear malformations covered by th...

journal_title：Journal of human genetics

authors： Namba A,Abe S,Shinkawa H,Kimberling WJ,Usami SI

更新日期：2001-01-01 00:00:00

abstract：:Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic diso...

journal_title：Journal of human genetics

authors： Gillentine MA,Lupo PJ,Stankiewicz P,Schaaf CP

更新日期：2018-07-01 00:00:00

abstract：:Fabry disease is a genetic disorder caused by a deficiency of α-galactosidase A (GLA). In our previous studies, we structurally investigated Fabry disease using a structural analysis system, and revealed that structural changes in GLA are very important for understanding the molecular basis of this disease. To the bes...

journal_title：Journal of human genetics

authors： Saito S,Ohno K,Sakuraba H

更新日期：2011-06-01 00:00:00

abstract：:The Ras-CRK-Rap1 cellular signal-transduction system is regulated by guanine nucleotide exchange factors (GEFs). Transcription of C3G on chromosome 9q34 and a key member of the GEF gene family is activated by the CRK-adaptor protein; the C3G product is a CRK SH3 domain-binding guanine nucleotide-releasing factor. We d...

journal_title：Journal of human genetics

authors： Hirata T,Nagai H,Koizumi K,Okino K,Harada A,Onda M,Nagahata T,Mikami I,Hirai K,Haraguchi S,Jin E,Kawanami O,Shimizu K,Emi M

更新日期：2004-01-01 00:00:00

abstract：:Panic disorder (PD) is a severe and chronic psychiatric disorder, with significant genetic components in the etiology. Brain-derived neurotrophic factor (BDNF) gene, which has regulatory effects on neurotransmitter systems such as serotonin and dopamine, is a candidate for susceptibility locus of PD. This study invest...

journal_title：Journal of human genetics

authors： Otowa T,Shimada T,Kawamura Y,Liu X,Inoue K,Sugaya N,Minato T,Nakagami R,Tochigi M,Umekage T,Kasai K,Kato N,Tanii H,Okazaki Y,Kaiya H,Sasaki T

更新日期：2009-08-01 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：:PLA2G6-associated neurodegeneration (PLAN) comprises heterogeneous neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation 2B, and Parkinson disease 14 (PARK14). In addition, very recently, PLA2G6 mutations have been reported to represent a phenotype of he...

journal_title：Journal of human genetics

authors： Koh K,Ichinose Y,Ishiura H,Nan H,Mitsui J,Takahashi J,Sato W,Itoh Y,Hoshino K,Tsuji S,Takiyama Y,Japan Spastic Paraplegia Research Consotium.

更新日期：2019-01-01 00:00:00

abstract：:Local genomic architecture, such as segmental duplications (SDs), can induce copy number variations (CNVs) hotspots in the human genome, many of which manifest as genomic disorders. Significant technological advances have been achieved for genome-wide CNV investigations, but these costly methods are not suitable for g...

journal_title：Journal of human genetics

authors： Du R,Lu C,Jiang Z,Li S,Ma R,An H,Xu M,An Y,Xia Y,Jin L,Wang X,Zhang F

更新日期：2012-08-01 00:00:00

abstract：:Human carboxyl ester lipase (CEL) secreted by the pancreas into the duodenum is a glycoprotein playing an essential role in the intestinal processing of cholesterol and lipid-soluble vitamins. The gene encoding CEL was known to contain a tandemly repeated sequence of the 11-amino-acid motif in the C-terminal region. W...

journal_title：Journal of human genetics

authors： Higuchi S,Nakamura Y,Saito S

更新日期：2002-01-01 00:00:00

abstract：:Age-related macular degeneration (AMD) is a common cause of visual impairment in the elderly population in developed countries. The etiology of AMD is not completely understood but environmental and genetic factors have been implicated in the disease. Recently it has been documented that variations in the complement f...

journal_title：Journal of human genetics

authors： Shastry BS

更新日期：2007-01-01 00:00:00

abstract：:The predominant risk factor of metabolic syndrome is intra-abdominal fat accumulation, which is determined by waist circumference and waist-hip ratio measurements and visceral fat area (VFA) that is measured by computed tomography (CT). There is evidence that waist circumference and waist-hip ratio in the Caucasian po...

journal_title：Journal of human genetics

authors： Hotta K,Nakamura M,Nakamura T,Matsuo T,Nakata Y,Kamohara S,Miyatake N,Kotani K,Komatsu R,Itoh N,Mineo I,Wada J,Yoneda M,Nakajima A,Funahashi T,Miyazaki S,Tokunaga K,Kawamoto M,Masuzaki H,Ueno T,Hamaguchi K,Tanak

更新日期：2010-11-01 00:00:00

abstract：:Cystic fibrosis is a hereditary disease that mostly affects the sweat glands, respiratory system, digestive system, and reproductive system. Many and various types of mutations have been reported in CFTR in different ethnicities and countries/regions. Analysis of CFTR gene rearrangements is recommended in patients wit...

journal_title：Journal of human genetics

authors： Duz MB,Ozyavuz Cubuk P

更新日期：2021-03-01 00:00:00