Confirmation of two novel loci for infantile hypertrophic pyloric stenosis on chromosomes 3 and 5.

abstract：:Congenital scoliosis (CS) is a form of scoliosis caused by congenital vertebral malformations. Genetic predisposition has been demonstrated in CS. We previously reported that TBX6 loss-of-function causes CS in a compound heterozygous model; however, this model can explain only 10% of CS. Many monogenic and polygenic C...

journal_title：Journal of human genetics

authors： Lin M,Zhao S,Liu G,Huang Y,Yu C,Zhao Y,Wang L,Zhang Y,Yan Z,Wang S,Liu S,Liu J,Ye Y,Chen Y,Yang X,Tong B,Wang Z,Yang X,Niu Y,Li X,Wang Y,Su J,Yuan J,Zhao H,Zhang S,Qiu G,Deciphering Disorders Involving

更新日期：2020-03-01 00:00:00

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：:When compared with single gene functional analysis, gene set analysis (GSA) can extract more information from gene expression profiles. Currently, several gene set methods have been proposed, but most of the methods cannot detect gene sets with a large number of minor-effect genes. Here, we propose a novel distance-ba...

journal_title：Journal of human genetics

authors： Li J,Wang L,Xu L,Zhang R,Huang M,Wang K,Xu J,Lv H,Shang Z,Zhang M,Jiang Y,Guo M,Li X

更新日期：2012-10-01 00:00:00

abstract：:Osteoarthritis (OA) is a very common bone and joint disease characterized by breakdown of cartilage in the joint. We recently found that an aspartic-acid repeat polymorphism of the asporin gene (ASPN) on chromosome 9 is associated with susceptibility to OA in Japanese. We provide here a high-resolution single nucleoti...

journal_title：Journal of human genetics

authors： Iida A,Kizawa H,Nakamura Y,Ikegawa S

更新日期：2006-01-01 00:00:00

abstract：:The prevalence of spermatogenic failure (SF) has gradually increased during the past few decades at least in several countries. Although multiple factors would be involved in this phenomenon, one important factor would be excessive estrogen effects via estrogen receptors (ERs). Thus, we performed haplotype analysis of...

journal_title：Journal of human genetics

authors： Ogata T,Fukami M,Yoshida R,Nagata E,Fujisawa Y,Yoshida A,Yoshimura Y

更新日期：2012-07-01 00:00:00

abstract：:The neurofilament light chain polypeptide (NEFL) forms the major intermediate filament in neurons and axons. NEFL mutation is a cause of axonal or demyelinating forms of dominant Charcot-Marie-Tooth disease (CMT). We investigated NEFL in 223 Japanese CMT patients who were negative for PMP22, MPZ, GJB1, LITAF, EGR2, GD...

journal_title：Journal of human genetics

authors： Abe A,Numakura C,Saito K,Koide H,Oka N,Honma A,Kishikawa Y,Hayasaka K

更新日期：2009-02-01 00:00:00

abstract：:Fragile X syndrome (FXS) is a neurodevelopmental disorder and a leading monogenic form of cognitive impairment and autism. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females. It is caused by the instability and subsequent expansion of the CGG re...

journal_title：Journal of human genetics

authors： Martorell L,Nascimento MT,Colome R,Genovés J,Naudó M,Nascimento A

更新日期：2011-01-01 00:00:00

abstract：:Prader-Willi syndrome (PWS) is primarily caused by deletions involving the paternally derived imprinted region at chromosome 15q11.2-q13 and maternal uniparental disomy 15 (upd(15)mat). The underlying mechanisms for upd(15)mat include trisomy rescue (TR), gamete complementation (GC), monosomy rescue and post-fertiliza...

journal_title：Journal of human genetics

authors： Matsubara K,Murakami N,Nagai T,Ogata T

更新日期：2011-08-01 00:00:00

abstract：:DNase II is an important enzyme for DNA fragmentation and degradation during programmed cell death and, consequently, a potential candidate gene for genetic study of systemic lupus erythematosus (SLE). Genetic associations of DNase II with SLE and related phenotypes were examined in Korean patients with SLE. A total o...

journal_title：Journal of human genetics

authors： Shin HD,Park BL,Cheong HS,Lee HS,Jun JB,Bae SC

更新日期：2005-01-01 00:00:00

abstract：:A couple was referred for exploration of repetitive abortions. The man was found to be a carrier of a balanced reciprocal translocation t(9;10)(q11;p11.1). The meiotic segregation of chromosomes 9 and 10 was analysed in 5,157 spermatozoa from this translocation carrier and in 15,255 spermatozoa from three control dono...

journal_title：Journal of human genetics

authors： Rives N,Jarnot M,Mousset-Siméon N,Joly G,Macé B

更新日期：2003-01-01 00:00:00

abstract：:Diffuse panbronchiolitis (DPB) is a distinctive chronic inflammatory lung disease predominantly found in Asian populations. Although its etiology is unknown, DPB is considered to be a multifactorial disease of whose susceptibility is determined by genetic predisposition unique to Asians. We and others have previously ...

journal_title：Journal of human genetics

authors： Emi M,Keicho N,Tokunaga K,Katsumata H,Souma S,Nakata K,Taguchi Y,Ohishi N,Azuma A,Kudoh S

更新日期：1999-01-01 00:00:00

abstract：:We found a five-basepair insertion/deletion polymorphism in intron 3 of TNNT2, one of the genes responsible for hypertrophic cardiomyopathy. These five bases may be part of an intronic polypyrimidine tract sequence that may affect splicing. The purpose of the study was to examine the association of the polymorphism wi...

journal_title：Journal of human genetics

authors： Komamura K,Iwai N,Kokame K,Yasumura Y,Kim J,Yamagishi M,Morisaki T,Kimura A,Tomoike H,Kitakaze M,Miyatake K

更新日期：2004-01-01 00:00:00

abstract：:Glutathione synthetase deficiency is a rare autosomal recessive disorder resulting in low levels of glutathione and an increased susceptibility to oxidative stress. Patients with glutathione synthetase deficiency typically present in the neonatal period with hemolytic anemia, metabolic acidosis and neurological impair...

journal_title：Journal of human genetics

authors： Atwal PS,Medina CR,Burrage LC,Sutton VR

更新日期：2016-07-01 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：:The expansion of polyalanine repeats is known to cause at least nine disorders, including congenital central hypoventilation syndrome (CCHS). Unequal crossover has been speculated as the expanding mechanism, in contrast to strand slippage in polyglutamine expansion disorders. We carried out segregation analysis of PHO...

journal_title：Journal of human genetics

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

更新日期：2007-01-01 00:00:00

abstract：:Dent's disease (DD) involves nephrocalcinosis, urolithiasis, hypercalciuria, LMW proteinuria, and renal failure in various combinations. Males are affected. It is caused by mutations in the chloride channel CLCN5 gene. It has been suggested that DD is underdiagnosed, occurring in less overt forms, apparently without f...

journal_title：Journal of human genetics

authors： Tosetto E,Graziotto R,Artifoni L,Nachtigal J,Cascone C,Conz P,Piva M,Dell'Aquila R,De Paoli Vitali E,Citron L,Nalesso F,Antonello A,Vertolli U,Zagatti R,Lupo A,D'Angelo A,Anglani F,Gambaro G

更新日期：2006-01-01 00:00:00

abstract：:A-kinase anchoring protein 95 (AKAP95) is a nuclear protein which binds to the regulatory subunit (RII) of cyclic adenosine monophosphate (cAMP)-dependent protein kinase (PKA) and to DNA. A novel nuclear human gene which shares sequence homology with the human AKAP95 gene was identified by a nuclear transportation tra...

journal_title：Journal of human genetics

authors： Seki N,Ueki N,Yano K,Saito T,Masuho Y,Muramatsu M

更新日期：2000-01-01 00:00:00

abstract：:Several lines of evidence suggest that in Caucasian populations, mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene are associated with susceptibility to lung disease caused by nontuberculous mycobacteria (NTM). However, there is little data available in Asian populations, in which t...

journal_title：Journal of human genetics

authors： Jang MA,Kim SY,Jeong BH,Park HY,Jeon K,Kim JW,Ki CS,Koh WJ

更新日期：2013-05-01 00:00:00

abstract：:We examined 136 patients with mitochondrial DNA (mtDNA) deletion. Clinical diagnoses included chronic progressive external ophthalmoplegia (94 patients); Kearns-Sayre syndrome (KSS; 33 patients); Pearson's marrow-pancreas syndrome (six patients); and Leigh syndrome, Reye-like syndrome, and mitochondrial myopathy, ence...

journal_title：Journal of human genetics

authors： Yamashita S,Nishino I,Nonaka I,Goto YI

更新日期：2008-01-01 00:00:00

abstract：:Molecular diagnosis of genetic bone dysplasia is challenging for non-expert. A targeted next-generation sequencing technology was applied to identify the underlying molecular mechanism of bone dysplasia and evaluate the contribution of these genes to patients with bone dysplasia encountered in pediatric endocrinology....

journal_title：Journal of human genetics

authors： Zhang H,Yang R,Wang Y,Ye J,Han L,Qiu W,Gu X

更新日期：2015-12-01 00:00:00

abstract：:The pattern of X-chromosome inactivation (XCI) can affect the clinical severity of X-linked disorders in females. XCI pattern analysis has been conducted mainly by HUMARA assay, a polymerase chain reaction-based assay using a methylation-sensitive restriction enzyme. However, this assay examines the XCI ratio of the a...

journal_title：Journal of human genetics

authors： Minamikawa S,Nozu K,Nozu Y,Yamamura T,Taniguchi-Ikeda M,Nakanishi K,Fujimura J,Horinouchi T,Shima Y,Nakanishi K,Hattori M,Kanda K,Tanaka R,Morisada N,Nagano C,Sakakibara N,Nagase H,Morioka I,Kaito H,Iijima K

更新日期：2018-05-01 00:00:00

abstract：:Alcohol response is a genetically influenced trait, and there is significant variation in the patterns of alcohol consumption between Māori and Caucasians in New Zealand. Previous studies have found that a variant of the alcohol dehydrogenase (ADH) gene (ADH1B*47His) is associated with protection against alcohol depen...

journal_title：Journal of human genetics

authors： Hall DA,Chambers GK,Lea RA

更新日期：2007-01-01 00:00:00

abstract：:Dihydrotestosterone is crucial for normal development of external genitalia and prostate in the male embryo. Autosomal recessive mutations in the 5 alpha-reductase type 2 (SRD5A2) gene disrupt the synthesis of dihydrotestosterone in the urogenital tract and give rise to genetic males with undervirilized external genit...

journal_title：Journal of human genetics

authors： Vilchis F,Valdez E,Ramos L,García R,Gómez R,Chávez B

更新日期：2008-01-01 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：: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：:Single nucleotide polymorphism (SNP) interaction plays a critical role for complex diseases. The primary limitation of logistic regressions (LR) in testing SNP-SNP interactions is that coefficient estimates may not be valid because of numerous terms in a model. Multivariate adaptive regression splines (MARS) have usef...

journal_title：Journal of human genetics

authors： Lin HY,Wang W,Liu YH,Soong SJ,York TP,Myers L,Hu JJ

更新日期：2008-01-01 00:00:00

abstract：:In this study, the structure of the alpha1-acid glycoprotein (AGP), or orosomucoid (ORM), gene was investigated in a Ghanaian mother and her child, who shared an unusual variant, ORM1 S2(C), found by isoelectric focusing. Three remarkable changes of nucleotide sequence were observed: (1) The two ORM1 alleles, ORMI*S a...

journal_title：Journal of human genetics

authors： Yuasa I,Nakamura H,Henke L,Henke J,Nakagawa M,Irizawa Y,Umetsu K

更新日期：2001-01-01 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：:Partner and localiser of BRCA2 forms part of a macromolecular complex with BRCA1 and BRCA2, which is critical for the repair of double-strand DNA breaks by homologous DNA recombination. Germline loss-of-function variants in the PALB2 gene may confer an increased lifetime risk of breast, pancreatic, ovarian and other c...

journal_title：Journal of human genetics

authors： Janssen B,Bellis S,Koller T,Tischkowitz M,Liau SS

更新日期：2020-01-01 00:00:00

abstract：:Hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) is an adult-onset peripheral neurodegenerative disorder which has been reported only in the Okinawa Islands, Japan. The disease locus of "Okinawa-type" HMSN-P has been previously mapped to 3q13.1, with all affected individuals sharing an identica...

journal_title：Journal of human genetics

authors： Maeda K,Kaji R,Yasuno K,Jambaldorj J,Nodera H,Takashima H,Nakagawa M,Makino S,Tamiya G

更新日期：2007-01-01 00:00:00