当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Single-nucleotide polymorphisms of the nuclear lamina proteome.

Single-nucleotide polymorphisms of the nuclear lamina proteome.

Abstract：

:Familial partial lipodystrophy (FPLD) has been shown to be due to mutations in the LMNA gene encoding nuclear lamins A and C, indicating that defective structure of the nuclear envelope can produce this unique phenotype. Some patients with inherited partial lipodystrophy have normal LMNA coding, promoter, and 3'-untranslated region sequences. This suggests that the FPLD phenotype is genetically heterogeneous. Among the candidate genes to consider for the non-LMNA-associated forms of FPLD are other components of the inner nuclear membrane, such as lamin B1 and B2 and the lamin B receptor. We developed amplification primers for the coding regions of LMNB1, LMNB2, and LBR, which encode lamin B1, lamin B2, and the lamin B receptor, respectively. We found no putative disease mutations in any of these proteins in subjects with non-LMNA FPLD, but, through the screening of diseased and normal subjects, we identified several single-nucleotide polymorphisms (SNPs); specifically, five SNPs in LMNB1 and four SNPs in LBR. The LMNB2 gene was monomorphic in screening experiments. We conclude that mutations in other constituent proteins of the nuclear envelope are not present in subjects with non-LMNA-associated FPLD. However, the identification of amplification primers and SNPs provides tools to investigate these proteins for their association with other phenotypes.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Hegele RA,Yuen J,Cao H

doi

10.1007/s100380170072

keywords:

subject

Has Abstract

pub_date

2001-01-01 00:00:00

pages

351-4

issue

6

eissn

1434-5161

issn

1435-232X

journal_volume

46

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • Noncoding RNA and colorectal cancer: its epigenetic role.

    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

    pub_type： 杂志文章,评审

    doi：10.1038/jhg.2016.66

    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

  • A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.

    abstract：:Mirror-image polydactyly of hands and feet (MIP) is a very rare congenital anomaly characterized by mirror-image duplication of digits. To isolate the gene responsible for MIP, we performed translocation breakpoint cloning from an MIP patient with t(2;14)(p23.3;q13). We isolated a good candidate gene for MIP that was ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200015

    authors： Kondoh S,Sugawara H,Harada N,Matsumoto N,Ohashi H,Sato M,Kantaputra PN,Ogino T,Tomita H,Ohta T,Kishino T,Fukushima Y,Niikawa N,Yoshiura K

    更新日期：2002-01-01 00:00:00

  • A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia.

    abstract：:Essential hypersomnia (EHS) is a lifelong disorder characterized by excessive daytime sleepiness without cataplexy. EHS is associated with human leukocyte antigen (HLA)-DQB1*06:02, similar to narcolepsy with cataplexy (narcolepsy). Previous studies suggest that DQB1*06:02-positive and -negative EHS are different in te...

    journal_title：Journal of human genetics

    pub_type： 临床试验,杂志文章,多中心研究

    doi：10.1038/s10038-018-0518-8

    authors： Miyagawa T,Khor SS,Toyoda H,Kanbayashi T,Imanishi A,Sagawa Y,Kotorii N,Kotorii T,Ariyoshi Y,Hashizume Y,Ogi K,Hiejima H,Kamei Y,Hida A,Miyamoto M,Ikegami A,Wada Y,Takami M,Higashiyama Y,Miyake R,Kondo H,Fujimura

    更新日期：2018-12-01 00:00:00

  • Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion.

    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

    pub_type： 杂志文章

    doi：10.1038/s10038-020-00859-w

    authors： Duz MB,Ozyavuz Cubuk P

    更新日期：2021-03-01 00:00:00

  • The medaka fish Tol2 transposable element can undergo excision in human and mouse cells.

    abstract：:Tol2 is an active DNA-based transposable element identified in the medaka fish, Oryzias latipes. Originating from a vertebrate and belonging to the hAT ( hobo/ Activator/ Tam3) transposable element family, featuring a wide distribution among organisms, Tol2 would be expected to be active if introduced into mammals. We...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0016-4

    authors： Koga A,Iida A,Kamiya M,Hayashi R,Hori H,Ishikawa Y,Tachibana A

    更新日期：2003-01-01 00:00:00

  • Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity.

    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

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0193-7

    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

  • Mitochondrial DNA and Y-chromosomal stratification in Iran: relationship between Iran and the Arabian Peninsula.

    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

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.174

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

    更新日期：2011-03-01 00:00:00

  • Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.

    abstract：:Brown-Vialetto-Van Laere syndrome (BVVLS) is a very rare neurodegenerative disorder characterized by pontobulbar palsy and sensorineural hearing loss. Its mode of inheritance in affected families has usually been autosomal recessive, although autosomal dominant inheritance and incomplete penetrance have also been repo...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.70

    authors： Dezfouli MA,Yadegari S,Nafissi S,Elahi E

    更新日期：2012-09-01 00:00:00

  • Transitional change in interaction between HIF-1 and HNF-4 in response to hypoxia.

    abstract：:The roles of the erythropoietin (Epo) 3' enhancer in the activation of gene expression in response to hypoxia were investigated. The enhancer contains hypoxia-inducible enhancer binding site 1 (HIF-1 element) and two direct repeats of hexanucleotide consensus nuclear receptor half site (HNF-4 element). HIF-1, which is...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050163

    authors： Zhang W,Tsuchiya T,Yasukochi Y

    更新日期：1999-01-01 00:00:00

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

    abstract：:The scavenger receptor class B type 1 (SCARB1) gene is a key component in the reverse cholesterol transport pathway and thus plays an important role in lipid metabolism. Studies suggest that the SCARB1 gene may contribute to variation in plasma lipid levels at fasting; however, the results have been inconsistent, and ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-008-0302-2

    authors： Liu Y,Ordovas JM,Gao G,Province M,Straka RJ,Tsai MY,Lai CQ,Zhang K,Borecki I,Hixson JE,Allison DB,Arnett DK

    更新日期：2008-01-01 00:00:00

  • Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.

    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

    pub_type： 杂志文章

    doi：10.1038/jhg.2015.57

    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

  • A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

    abstract：:In mammals, X-linked gene products can be dosage compensated between males and females by inactivation of one of the two X chromosomes in the developing female embryos. X inactivation choice is usually random in embryo mammals, but several mechanisms can influence the choice determining skewed X inactivation. As a con...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0049-6

    authors： Cau M,Addis M,Congiu R,Meloni C,Cao A,Santaniello S,Loi M,Emma F,Zuffardi O,Ciccone R,Sole G,Melis MA

    更新日期：2006-01-01 00:00:00

  • Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia.

    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

    pub_type： 杂志文章

    doi：10.1038/s10038-020-00846-1

    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

  • Long-read sequencing for rare human genetic diseases.

    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

    pub_type： 杂志文章,评审

    doi：10.1038/s10038-019-0671-8

    authors： Mitsuhashi S,Matsumoto N

    更新日期：2020-01-01 00:00:00

  • Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene.

    abstract：:Deletion of exons 45-55 (del45-55) in the Duchenne muscular dystrophy gene (DMD) has gained particular interest in the field of molecular therapy, because it causes a milder phenotype than DMD, and therefore, may represent a good candidate for the goal of a multiple exon-skipping strategy. We have precisely characteri...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2008.8

    authors： Miyazaki D,Yoshida K,Fukushima K,Nakamura A,Suzuki K,Sato T,Takeda S,Ikeda S

    更新日期：2009-02-01 00:00:00

  • APOBEC3H polymorphisms and susceptibility to HIV-1 infection in an Indian population.

    abstract：:Human APOBEC3H (A3H) is a member of APOBEC cytidine deaminase family intensively constraining the HIV-1 replication. A3H is known to be polymorphic with different protein stability and anti-HIV-1 activity in vitro. We recently reported that A3H haplotypes composed of two functional polymorphisms, rs139292 (N15del) and...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2015.136

    authors： Naruse TK,Sakurai D,Ohtani H,Sharma G,Sharma SK,Vajpayee M,Mehra NK,Kaur G,Kimura A

    更新日期：2016-03-01 00:00:00

  • An Ile/Val polymorphism at codon 1464 of the ATP7A gene.

    abstract：:An isoleucine/valine polymorphism was observed at codon 1464 of the ATP7A gene, which is thought to encode a copper transporting adenosine triphosphatase (ATPase). The frequency of Val1464 was estimated to be 5.7% in the Japanese population. This polymorphism may be useful in genetic studies of Menkes disease. ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050194

    authors： Ogawa A,Yamamoto S,Takayanagi M,Kogo T,Kanazawa M,Kohno Y

    更新日期：1999-01-01 00:00:00

  • Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene.

    abstract：:Androgen insensitivy syndrome (AIS) is the most frequent cause of male pseudohermaphroditism resulting from target-organ resistance to androgen action. Individuals bearing the complete form of the disease (CAIS) present a female phenotype and a lack of pubic and axillary hair. In the present study, four 46,XY patients...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0036-0

    authors： Vilchis F,Ramos L,Kofman-Alfaro S,Zenteno JC,Méndez JP,Chávez B

    更新日期：2003-01-01 00:00:00

  • Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.

    abstract：:Hypohidrotic ectodermal dysplasia (HED), a rare and heterogeneous hereditary disorder, is characterized by deficient development of multiple ectodermal structures including hair, sweat glands and teeth. If caused by mutations in the genes EDA, EDA1R or EDARADD, phenotypes are often very similar as the result of a comm...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.75

    authors： Wohlfart S,Hammersen J,Schneider H

    更新日期：2016-10-01 00:00:00

  • Unique origin of Andaman Islanders: insight from autosomal loci.

    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

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0026-0

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

    更新日期：2006-01-01 00:00:00

  • Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis.

    abstract：:Osteoprotegerin (OPG), a secreted glycoprotein and a member of the tumor necrosis factor receptor superfamily, is considered to play an important role in the regulation of bone resorption by modifying osteoclast differentiation. Overexpression of OPG in mice has been reported to result in osteopetrosis, whereas target...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200058

    authors： Ohmori H,Makita Y,Funamizu M,Hirooka K,Hosoi T,Orimo H,Suzuki T,Ikari K,Nakajima T,Inoue I,Hata A

    更新日期：2002-01-01 00:00:00

  • Robust imaging and gene delivery to study human lymphoblastoid cell lines.

    abstract：:Lymphoblastoid cell lines (LCLs) have been by far the most prevalent cell type used to study the genetics underlying normal and disease-relevant human phenotypic variation, across personal to epidemiological scales. In contrast, only few studies have explored the use of LCLs in functional genomics and mechanistic stud...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0483-2

    authors： Jolly LA,Sun Y,Carroll R,Homan CC,Gecz J

    更新日期：2018-09-01 00:00:00

  • High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis.

    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

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0095-2

    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

  • A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.

    abstract：:Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies with lack of myelination of the posterior limb of the internal capsule, brainstem tracts, and ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-0765-3

    authors： Sakamoto M,Kouhei D,Haniffa M,Silva S,Troncoso M,Santander P,Schonstedt V,Stecher X,Okamoto N,Hamanaka K,Mizuguchi T,Mitsuhashi S,Miyake N,Matsumoto N

    更新日期：2020-09-01 00:00:00

  • Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.

    abstract：:The KCNQ2 gene codifies a subunit of the voltage-gated potassium M channel underlying the neuronal M-current. Classically, mutations in this gene have been associated with benign familial neonatal seizures, however, in recent years KCNQ2 mutations have been reported associated to early-onset epileptic encephalopathy. ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.104

    authors： Hortigüela M,Fernández-Marmiesse A,Cantarín V,Gouveia S,García-Peñas JJ,Fons C,Armstrong J,Barrios D,Díaz-Flores F,Tirado P,Couce ML,Gutiérrez-Solana LG

    更新日期：2017-02-01 00:00:00

  • Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.

    abstract：:De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa with progeroid features (MIM 616603). To date, all de novo dominant mutations have been found in a single highly conserved amino acid residue at position p.Arg138...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2017.18

    authors： Bhola PT,Hartley T,Bareke E,Care4Rare Canada Consortium.,Boycott KM,Nikkel SM,Dyment DA

    更新日期：2017-06-01 00:00:00

  • Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese.

    abstract：:Most studies on the genetic basis of human skin pigmentation have focused on people of European ancestry and only a few studies have focused on Asian populations. We investigated the association of skin reflectance and freckling with genetic variants of melanocortin 1 receptor (MC1R) gene in Japanese. DNA samples were...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.96

    authors： Yamaguchi K,Watanabe C,Kawaguchi A,Sato T,Naka I,Shindo M,Moromizato K,Aoki K,Ishida H,Kimura R

    更新日期：2012-11-26 00:00:00

  • Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis.

    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

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0416-0

    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

  • A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.

    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

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0443-x

    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

  • Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.

    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

    pub_type： 杂志文章

    doi：10.1038/s10038-019-0599-z

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

    更新日期：2019-07-01 00:00:00