Coevolution of genes and languages and high levels of population structure among the highland populations of Daghestan.

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：:The use of mixed models to determine narrow-sense heritability and related quantities such as SNP heritability has received much recent attention. Less attention has been paid to the inherent variability in these estimates. One approach for quantifying variability in estimates of heritability is a frequentist approach...

journal_title：Journal of human genetics

authors： Furlotte NA,Heckerman D,Lippert C

更新日期：2014-05-01 00:00:00

abstract：:IgE-mediated allergy is a common chronic disorder resulting from interactions between genetic and environmental factors. The gene encoding CD14 is a positional candidate gene for allergic diseases as it is localised on chromosome 5q31.1, a region linked to asthma and bronchial hyperresponsiveness. We investigated the ...

journal_title：Journal of human genetics

authors： Bučková D,Hollá LI,Znojil V,Vašků A

更新日期：2006-01-01 00:00:00

abstract：:Carnitine-acylcarnitine translocase (CACT) and carnitine palmitoyltransferase II (CPT2) are key enzymes for transporting long-chain fatty acids into mitochondria. Deficiencies of these enzymes, which are clinically characterized by life-threatening non-ketotic hypoglycemia and rhabdomyolysis, cannot be distinguished b...

journal_title：Journal of human genetics

authors： Fukushima T,Kaneoka H,Yasuno T,Sasaguri Y,Tokuyasu T,Tokoro K,Fukao T,Saito T

更新日期：2013-12-01 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：:Genome-wide association studies (GWAS) have identified many susceptibility loci for cardiometabolic disorders. Most of the associated variants reside in non-coding regions of the genome including long non-coding RNAs (lncRNAs), which are thought to play critical roles in diverse biological processes. Here, we leverage...

journal_title：Journal of human genetics

authors： Ghanbari M,Peters MJ,de Vries PS,Boer CG,van Rooij JGJ,Lee YC,Kumar V,Uitterlinden AG,Ikram MA,Wijmenga C,Ordovas JM,Smith CE,van Meurs JBJ,Erkeland SJ,Franco OH,Dehghan A

更新日期：2018-04-01 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：: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：:Two-color fluorescence in situ hybridization (FISH) analysis using human chromosome arm-specific telomeric probes (telomeric probes) was used successfully to detect each derivative chromosome of a translocation carrier in five couples who requested a prenatal diagnosis in future pregnancies. Most of the human chromoso...

journal_title：Journal of human genetics

authors： Wakui K,Tanemura M,Suzumori K,Hidaka E,Ishikawa M,Kubota T,Fukushima Y

更新日期：1999-01-01 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：:Since adducin modulates cellular sodium retention, its follows that ADD1, which encodes the alpha-subunit of adducin, is an attractive candidate gene for blood pressure variation. Association studies examining the relationship between polymorphism at ADD1 codon 460 (G460W) and both hypertension and blood pressure, whi...

journal_title：Journal of human genetics

authors： Busch CP,Harris SB,Hanley AJ,Zinman B,Hegele RA

更新日期：1999-01-01 00:00:00

abstract：:The transcriptional factor nuclear factor kappa-beta (NFKB) consists of a multicomponent protein complex that plays a major role in the regulation of many viral and cellular genes. The NFKB complex has two alternative DNA binding subunits. We isolated a polymorphic dinucleotide (CA) repeat sequence from a genomic clon...

journal_title：Journal of human genetics

authors： Ota N,Nakajima T,Shirai Y,Emi M

更新日期：1999-01-01 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：:A full-length cDNA encoding a novel protein was isolated and sequenced from a human placental cDNA library. This cDNA consists of 1,735 base pairs and has a predicted open reading frame (ORF) encoding 354 amino acids. It possesses a putative signal sequence, a long extracellular domain, a transmembrane region, a short...

journal_title：Journal of human genetics

authors： Ichigotani Y,Matsuda S,Machida K,Oshima K,Iwamoto T,Yamaki K,Hayakawa T,Hamaguchi M

更新日期：2000-01-01 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：: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：: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：:Ectodermal-dysplasia-syndactyly syndrome (EDSS1) is a rare form of ectodermal dysplasia (ED), affecting skin and its appendages mainly hair, teeth and nails. In the present study, we have investigated a large consanguineous Pakistani family with 10 individuals showing features of EDSS1. Human genome was screened using...

journal_title：Journal of human genetics

authors： Jelani M,Chishti MS,Ahmad W

更新日期：2011-05-01 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：:An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

journal_title：Journal of human genetics

authors： Terasaki A,Nakamura M,Urata Y,Hiwatashi H,Yokoyama I,Yasuda T,Onuma T,Wada K,Kaneko S,Kan R,Niwa SI,Hashimoto O,Komure O,Goto YI,Yamagishi Y,Nakano M,Furusawa Y,Sano A

更新日期：2020-11-13 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：: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：:The genetic causes of Leigh syndrome are heterogeneous, with a poor genotype-phenotype correlation. To date, more than 50 nuclear genes cause nuclear gene-encoded Leigh syndrome. NDUFS6 encodes a 13 kiloDaltons subunit, which is part of the peripheral arm of complex I and is localized in the iron-sulfur fraction. Only...

journal_title：Journal of human genetics

authors： Rouzier C,Chaussenot A,Fragaki K,Serre V,Ait-El-Mkadem S,Richelme C,Paquis-Flucklinger V,Bannwarth S

更新日期：2019-07-01 00:00:00

abstract：:Results of twin studies have shown that autism spectrum disorders (ASDs) are attributable to complex multigenic interactions rather than to a single susceptibility gene. However, the growing number of distinct, individually rare genetic causes of ASDs, mostly copy number variations (CNVs), favors an alternative to the...

journal_title：Journal of human genetics

authors： Nishiyama T,Notohara M,Sumi S,Takami S,Kishino H

更新日期：2009-12-01 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：: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：:Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or Gitelman syndrome (GS), both renal salt-losing tubulopathies. Phenotypic overlap frequently occurs between p-BS/GS and BS/GS, which are difficult to diagnose ba...

journal_title：Journal of human genetics

authors： Matsunoshita N,Nozu K,Yoshikane M,Kawaguchi A,Fujita N,Morisada N,Ishimori S,Yamamura T,Minamikawa S,Horinouchi T,Nakanishi K,Fujimura J,Ninchoji T,Morioka I,Nagase H,Taniguchi-Ikeda M,Kaito H,Iijima K

更新日期：2018-07-01 00:00:00

abstract：:Tuberous sclerosis (TS) is a rare autosomal-dominant genetic disease. TS is manifested by the development of multiple hamartomas, which affect brain, kidneys, retina, skin and other organs. This study aimed to reveal specific features of molecular epidemiology of TS in Russia. Blood DNA samples from 61 patients with d...

journal_title：Journal of human genetics

authors： Suspitsin EN,Yanus GA,Dorofeeva MY,Ledashcheva TA,Nikitina NV,Buyanova GV,Saifullina EV,Sokolenko AP,Imyanitov EN

更新日期：2018-05-01 00:00:00

abstract：:Approximately one-third of the mammalian genome is composed of highly repeated DNA sequences, of which the two major families, the long and short inter-spersed nucleotide elements (LINEs and SINEs), are represented in humans by L1 and Alu elements respectively. Both 'types of element are considered to be retrotranspos...

journal_title：Journal of human genetics

authors： Miki Y

更新日期：1998-01-01 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