Molecular cloning of a novel human gene (SIRP-B2) which encodes a new member of the SIRP/SHPS-1 protein family.

abstract：:Breast and/or ovarian cancer (BOC) are among the most frequently diagnosed forms of hereditary cancers and leading cause of death in India. This emphasizes on the need for a cost-effective method for early detection of these cancers. We sequenced 141 unrelated patients and families with BOC using the TruSight Cancer p...

journal_title：Journal of human genetics

authors： Mannan AU,Singh J,Lakshmikeshava R,Thota N,Singh S,Sowmya TS,Mishra A,Sinha A,Deshwal S,Soni MR,Chandrasekar A,Ramesh B,Ramamurthy B,Padhi S,Manek P,Ramalingam R,Kapoor S,Ghosh M,Sankaran S,Ghosh A,Veeramachaneni

更新日期：2016-06-01 00:00:00

abstract：:DNA-repair pathways are critical for maintaining the integrity of the genetic material by protecting against mutations due to exposure-induced damages or replication errors. Polymorphisms in the corresponding genes may be relevant in genetic epidemiology by modifying individual cancer susceptibility or therapeutic res...

journal_title：Journal of human genetics

authors： Mathonnet G,Labuda D,Meloche C,Wambach T,Krajinovic M,Sinnett D

更新日期：2003-01-01 00:00:00

abstract：:A recent association study suggested that the His113 variant of microsomal epoxide hydrolase (mEPHX) may confer a risk for development of emphysema, presumably by increasing susceptibility to smoking injury. Before considering a possible role of this enzyme in pulmonary disease, we attempted to characterize the geneti...

journal_title：Journal of human genetics

authors： Keicho N,Emi M,Kajita M,Matsushita I,Nakata K,Azuma A,Ohishi N,Kudoh S

更新日期：2001-01-01 00:00:00

abstract：:Although large deletions in the dystrophin gene have been identified in more than two-thirds of Duchenne and Becker muscular dystrophy patients, the molecular mechanisms that lead to the generation of these deletions are largely unknown. Here, Alu and LINE-1 (L1) repetitive elements were shown to be present at one or ...

journal_title：Journal of human genetics

authors： Suminaga R,Takeshima Y,Yasuda K,Shiga N,Nakamura H,Matsuo M

更新日期：2000-01-01 00:00:00

abstract：:Multiple pterygium syndrome (MPS) is an autosomal recessively inherited condition that becomes evident before birth, with pterygium at multiple joints and akinesia. There are two forms of this syndrome that are differentiated by clinical severity: the milder form, Escobar type (OMIM#265000), and the more severe form, ...

journal_title：Journal of human genetics

authors： Seo J,Choi IH,Lee JS,Yoo Y,Kim NK,Choi M,Ko JM,Shin YB

更新日期：2015-04-01 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：:We determined the genomic structure of the human gene encoding 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase, which catalyzes the conversion of HMG-CoA to mevalonate and is the rate-limiting and major regulatory enzyme in sterol biosynthesis. The gene is more than 21 kb long, about five times the size of i...

journal_title：Journal of human genetics

authors： Nakajima T,Iwaki K,Hamakubo T,Kodama T,Emi M

更新日期：2000-01-01 00:00:00

abstract：:As the methodology of genetic detection has developed rapidly in recent years, through techniques such as genome-wide association studies (GWAS) and the secondary generation of sequencing, we are able to view the genomic landscape more clearly. It is well known that genes have a vital role in the pathogenesis of immun...

journal_title：Journal of human genetics

authors： Wu X,Chen H,Xu H

更新日期：2015-11-01 00:00:00

abstract：:Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease caused by a decreased activity of hydroxymethylbilane synthase (HMBS). Regarding the abnormalities of the HMBS gene, many different mutations have been reported worldwide; however, few families from Japan have been studied. In this work, we ...

journal_title：Journal of human genetics

authors： Maeda N,Horie Y,Adachi K,Nanba E,Kawasaki H,Daimon M,Kudo Y,Kondo M

更新日期：2000-01-01 00:00:00

abstract：:Intracranial aneurysm (IA) is characterized by an abnormal bulging of one of the arteries in the brain and is heavily affected by genetic factors. Although IA is a very serious disease because of its severity and prevalence in the general public, the gene causing IA has not yet been identified due mainly to the lack o...

journal_title：Journal of human genetics

authors： Kim CJ,Park SS,Lee HS,Chung HJ,Choi W,Chung JH,Kim JM,Hong ST

更新日期：2011-06-01 00:00:00

abstract：:Site-1 protease (S1P) is a subtilisin-related enzyme that cleaves sterol regulatory element-binding proteins (SREBPs) in the lumen of endoplasmic reticulum, thereby initiating the release of transcriptionally active NH2-terminal fragments of SREBPs from membranes. In the experiments reported here, we localized the hum...

journal_title：Journal of human genetics

authors： Nakajima T,Iwaki K,Kodama T,Inazawa J,Emi M

更新日期：2000-01-01 00:00:00

abstract：:WNK lysine-deficient protein kinase 1 (WNK1) is a member of the WNK family of serine/threonine kinases with no lysine (K), and these kinases have been implicated as important modulators of salt homeostasis in the kidney. It is well known that high dietary sodium and low dietary potassium have been implicated in the et...

journal_title：Journal of human genetics

authors： Osada Y,Miyauchi R,Goda T,Kasezawa N,Horiike H,Iida M,Sasaki S,Yamakawa-Kobayashi K

更新日期：2009-08-01 00:00:00

abstract：:Lafora disease (LD) is a rare autosomal recessive genetic disorder characterized by epilepsy, myoclonus, and progressive neurological deterioration. LD is caused by mutations in the EMP2A gene encoding a protein phosphatase. A second gene for LD, termed NHLRC1 and encoding a putative E3 ubiquitin ligase, was recently ...

journal_title：Journal of human genetics

authors： Singh S,Suzuki T,Uchiyama A,Kumada S,Moriyama N,Hirose S,Takahashi Y,Sugie H,Mizoguchi K,Inoue Y,Kimura K,Sawaishi Y,Yamakawa K,Ganesh S

更新日期：2005-01-01 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：: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：:We report the clinical and biochemical findings from a patient who presented with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal-dominant disorder characterized by optic atrophy, developmental delay and intellectual disability. In addition, the patient also displays hypotonia, stroke-like episodes...

journal_title：Journal of human genetics

authors： Martín-Hernández E,Rodríguez-García ME,Chen CA,Cotrina-Vinagre FJ,Carnicero-Rodríguez P,Bellusci M,Schaaf CP,Martínez-Azorín F

更新日期：2018-04-01 00:00:00

abstract：:Congenital myopathies (CMs) are a heterogeneous group of muscle diseases characterized by hypotonia, delayed motor skills and muscle weakness with onset during the first years of life. The diagnostic workup of CM is highly dependent on the interpretation of the muscle histology, where typical pathognomonic findings ar...

journal_title：Journal of human genetics

authors： Oliveira J,Gonçalves A,Taipa R,Melo-Pires M,Oliveira ME,Costa JL,Machado JC,Medeiros E,Coelho T,Santos M,Santos R,Sousa M

更新日期：2016-06-01 00:00:00

abstract：:Heterozygous pathogenic variants in SLC12A2 are reported in patients with nonsyndromic hearing loss. Recently, homozygous loss-of-function variants have been reported in two patients with syndromic intellectual disability, with or without hearing loss. However, the clinical and molecular spectrum of SLC12A2 disease ha...

journal_title：Journal of human genetics

authors： Bilal Shamsi M,Saleh M,Almuntashri M,Alharby E,Samman M,Peake RWA,Al-Fadhli FM,Alasmari A,Faqeih EA,Almontashiri NAM

更新日期：2021-01-27 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：:Mutations of OCRL cause Lowe syndrome, which is characterised by congenital cataracts, infantile hypotonia with mental retardation, and renal tubular dysfunction and Dent-2 disease, which only affects the kidney. While few patients with an intermediate phenotype between these diseases have been reported, the mechanism...

journal_title：Journal of human genetics

authors： Nakano E,Yoshida A,Miyama Y,Yabuuchi T,Kajiho Y,Kanda S,Miura K,Oka A,Harita Y

更新日期：2020-10-01 00:00:00

abstract：:MLXIPL is a transcription factor integral to the regulation of glycolysis and lipogenesis in the liver. Common variants of the MLXIPL gene (MLXIPL) are known to influence plasma triglyceride levels in people of European descent. As MLXIPL has a key role in energy storage, genetic variations of the MLXIPL may be releva...

journal_title：Journal of human genetics

authors： Nakayama K,Yanagisawa Y,Ogawa A,Ishizuka Y,Munkhtulga L,Charupoonphol P,Supannnatas S,Kuartei S,Chimedregzen U,Koda Y,Ishida T,Kagawa Y,Iwamoto S

更新日期：2011-12-01 00:00:00

abstract：:The use of novel sequencing and high-throughput techniques has become widespread, and are now readily available to obtain the comprehensive transcription profile of the human genome. Noncoding RNAs (ncRNAs) are transcripts that have no apparent protein-coding capacity, but they have important roles in human physiology...

journal_title：Journal of human genetics

authors： Kita Y,Yonemori K,Osako Y,Baba K,Mori S,Maemura K,Natsugoe S

更新日期：2017-01-01 00:00:00

abstract：:The alpha 2-adrenergic receptors (alpha2-AR) mediate physiological effects of epinephrine and norepinephrine. Three genes encode alpha2-AR subtypes carrying common functional polymorphisms (ADRA2A Asn251Lys, ADRA2B Ins/Del301-303 and ADRA2C Ins/Del322-325). We genotyped these functional markers plus a panel of single ...

journal_title：Journal of human genetics

authors： Belfer I,Buzas B,Hipp H,Phillips G,Taubman J,Lorincz I,Evans C,Lipsky RH,Enoch MA,Max MB,Goldman D

更新日期：2005-01-01 00:00:00

abstract：:The efficacy of pharmacological chaperone therapy for Fabry disease depends on the type of α-galactosidase A (GLA) mutations. Here, we examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with Fabry disease. Of these, no pathogenic mutations were identified in six families (5.2%). I...

journal_title：Journal of human genetics

authors： Kobayashi M,Ohashi T,Kaneshiro E,Higuchi T,Ida H

更新日期：2019-07-01 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：: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：:GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the bi-functional enzyme critical for sialic acid biosynthesis. In this study, we summarized the clinical features, pathological characteristics, and genetic profiles ...

journal_title：Journal of human genetics

authors： Chen Y,Xi J,Zhu W,Lin J,Luo S,Yue D,Cai S,Sun C,Zhao C,Mitsuhashi S,Nishino I,Xu M,Lu J

更新日期：2019-01-01 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：:BBS8 is one of the eight genes identified to date for Bardet-Biedl syndrome (BBS)-an autosomal recessive condition associated with retinitis pigmentosa, obesity, polydactyly, cognitive impairment and kidney failure. The identification of BBS8 gave the key to the pathogenesis of the condition as a primary ciliary disor...

journal_title：Journal of human genetics

authors： Stoetzel C,Laurier V,Faivre L,Mégarbané A,Perrin-Schmitt F,Verloes A,Bonneau D,Mandel JL,Cossee M,Dollfus H

更新日期：2006-01-01 00:00:00