当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.

ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.

Abstract：

:Paget disease of bone (PDB) is a skeletal disorder characterized by focal abnormalities of bone remodeling, which result in enlarged and deformed bones in one or more regions of the skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant cell tumor of bone (GCT). We performed whole-exome sequencing in a large family with 14 PDB-affected members, four of whom developed GCT at multiple pagetic skeletal sites, and we identified the c.2810C>G (p.Pro937Arg) missense mutation in the zinc finger protein 687 gene (ZNF687). The mutation precisely co-segregated with the clinical phenotype in all affected family members. The sequencing of seven unrelated individuals with GCT associated with PDB (GCT/PDB) identified the same mutation in all individuals, unravelling a founder effect. ZNF687 is highly expressed during osteoclastogenesis and osteoblastogenesis and is dramatically upregulated in the tumor tissue of individuals with GCT/PDB. Interestingly, our preliminary findings showed that ZNF687, indicated as a target gene of the NFkB transcription factor by ChIP-seq analysis, is also upregulated in the peripheral blood of PDB-affected individuals with (n = 5) or without (n = 6) mutations in SQSTM1, encouraging additional studies to investigate its potential role as a biomarker of PDB risk.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Divisato G,Formicola D,Esposito T,Merlotti D,Pazzaglia L,Del Fattore A,Siris E,Orcel P,Brown JP,Nuti R,Strazzullo P,Benassi MS,Cancela ML,Michou L,Rendina D,Gennari L,Gianfrancesco F

doi

10.1016/j.ajhg.2015.12.016

subject

Has Abstract

pub_date

2016-02-04 00:00:00

pages

275-86

issue

2

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(15)00511-X

journal_volume

98

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • The two-mutational-event theory in medullary thyroid cancer.

    abstract：:Comparisons are presented of the ages of onset of 20 cases of hereditary medullary carcinoma of the thyroid (MCT) and of 22 sporadic cases of this same type of cancer. These data are compatible with what might be expected by the two-mutational-event theory of the initiation of cancer postulated by Knudson. It had been...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Jackson CE,Block MA,Greenawald KA,Tashjian AH Jr

    更新日期：1979-11-01 00:00:00

  • Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

    abstract：:Autosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities and associated with mutations in either the COL4A3 or the COL4A4 gene, which encode the alpha3 and alpha4 type IV collagen chains, respectively. To date, mutation screening in t...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302106

    authors： Boye E,Mollet G,Forestier L,Cohen-Solal L,Heidet L,Cochat P,Grünfeld JP,Palcoux JB,Gubler MC,Antignac C

    更新日期：1998-11-01 00:00:00

  • Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

    abstract：:Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional a...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2017.09.018

    authors： Sanna-Cherchi S,Khan K,Westland R,Krithivasan P,Fievet L,Rasouly HM,Ionita-Laza I,Capone VP,Fasel DA,Kiryluk K,Kamalakaran S,Bodria M,Otto EA,Sampson MG,Gillies CE,Vega-Warner V,Vukojevic K,Pediaditakis I,Makar GS,M

    更新日期：2017-11-02 00:00:00

  • Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

    abstract：:We identified four different missense mutations in the single-exon gene MAB21L2 in eight individuals with bilateral eye malformations from five unrelated families via three independent exome sequencing projects. Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.15...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2014.05.005

    authors： Rainger J,Pehlivan D,Johansson S,Bengani H,Sanchez-Pulido L,Williamson KA,Ture M,Barker H,Rosendahl K,Spranger J,Horn D,Meynert A,Floyd JA,Prescott T,Anderson CA,Rainger JK,Karaca E,Gonzaga-Jauregui C,Jhangiani S,Mu

    更新日期：2014-06-05 00:00:00

  • The varying frequencies of five DNA polymorphisms of X-linked coagulant factor IX in eight ethnic groups.

    abstract：:Five RFLPS of X-linked coagulation factor IX were evaluated in more than 500 normal persons (723-804 X chromosomes) of both sexes who belonged to eight ethnic groups: Anglo-Americans, Basques, Swedes, African-Americans, East Africans, East Indians, Chinese, and Malays. The polymorphisms, 5' to 3', were BamHI, XmnI, Ta...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Graham JB,Kunkel GR,Egilmez NK,Wallmark A,Fowlkes DM,Lord ST

    更新日期：1991-09-01 00:00:00

  • Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome.

    abstract：:Using sequence-tagged sites we have performed deletion mapping of the Y chromosome in sex-reversed female patients with a Y chromosome and gonadoblastoma. The GBY gene (gonadoblastoma locus on the Y chromosome) was sublocalized to a small region near the centromere of the Y chromosome. We estimate the size of the GBY ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Tsuchiya K,Reijo R,Page DC,Disteche CM

    更新日期：1995-12-01 00:00:00

  • Innovations in human genetics education. Medical student elective in clinical genetics.

    abstract：:The fourth-year medical student elective in clinical genetics has been enhanced by the addition of a problem-solving project. The assignment requires students to pose and answer a practical question about a professionally relevant genetic problem. Exemplary questions and the details of the exercise are given. Six of 1...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Bodurtha J,Spence JE,Stevens CA

    更新日期：1991-08-01 00:00:00

  • Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization.

    abstract：:Fluorescence in situ hybridization (FISH) with biotin-labeled probes mapping to 11p13 has been used for the molecular analysis of deletions of the WAGR (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation) locus. We have detected a submicroscopic 11p13 deletion in a child with inherited aniridia...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Fantes JA,Bickmore WA,Fletcher JM,Ballesta F,Hanson IM,van Heyningen V

    更新日期：1992-12-01 00:00:00

  • Genetic control of immune response to the L-Glu, L-Lys, L-Phe terpolymer in man.

    abstract：:We have demonstrated that human lymphocytes can respond to the synthetic polypeptide GLPhe upon in vitro challenge by the antigen similar to that of (H,G)-A--L, (T,G)-A--L, (Phe,G)-A--L, and GAT. Family studies further support our postulation that responses to these synthetic polymers are under dual gene control. Thre...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Chan MM,Bias WB,Hsu SH,Meyers DA

    更新日期：1985-05-01 00:00:00

  • Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

    abstract：:Antenatal Bartter syndrome is a variant of inherited renal-tubular disorders associated with hypokalemic alkalosis. This disorder typically presents as a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of this variant is a ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301872

    authors： Vargas-Poussou R,Feldmann D,Vollmer M,Konrad M,Kelly L,van den Heuvel LP,Tebourbi L,Brandis M,Karolyi L,Hebert SC,Lemmink HH,Deschênes G,Hildebrandt F,Seyberth HW,Guay-Woodford LM,Knoers NV,Antignac C

    更新日期：1998-06-01 00:00:00

  • Patterns of ancestral human diversity: an analysis of Alu-insertion and restriction-site polymorphisms.

    abstract：:We have analyzed 35 widely distributed, polymorphic Alu loci in 715 individuals from 31 world populations. The average frequency of Alu insertions (the derived state) is lowest in Africa (.42) but is higher and similar in India (.55), Europe (.56), and Asia (.57). A comparison with 30 restriction-site polymorphisms (R...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/318793

    authors： Watkins WS,Ricker CE,Bamshad MJ,Carroll ML,Nguyen SV,Batzer MA,Harpending HC,Rogers AR,Jorde LB

    更新日期：2001-03-01 00:00:00

  • Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

    abstract：:Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.12.002

    authors： Abouzeid H,Boisset G,Favez T,Youssef M,Marzouk I,Shakankiry N,Bayoumi N,Descombes P,Agosti C,Munier FL,Schorderet DF

    更新日期：2011-01-07 00:00:00

  • Allele frequency distribution of two highly polymorphic DNA sequences in three ethnic groups and its application to the determination of paternity.

    abstract：:The allele frequency distribution of two highly polymorphic DNA sequences has been determined in three ethnic groups (American blacks, Caucasoids, and Hispanics) from the New York metropolitan area. The two loci examined were D14S1 and the flanking region of HRAS-1. The former was analyzed in EcoRI-digested DNA and th...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Baird M,Balazs I,Giusti A,Miyazaki L,Nicholas L,Wexler K,Kanter E,Glassberg J,Allen F,Rubinstein P

    更新日期：1986-10-01 00:00:00

  • Risk of chromosomal abnormalities, with emphasis on live-born offspring of young mothers.

    abstract：:In a large public urban hospital obstetrics service with > 123,000 deliveries in a 10-year period (1980-89), the frequencies (0.12%) of any type of chromosomal abnormality and of trisomy syndromes were analyzed for maternal age-related risk, by logistic regression. Focusing on very young gravidas, we found that in the...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Little BB,Ramin SM,Cambridge BS,Schneider NR,Cohen DS,Snell LM,Harrod MJ,Johnston WL

    更新日期：1995-11-01 00:00:00

  • Cytogenetic and molecular analysis of sex-chromosome monosomy.

    abstract：:X chromosome- and Y chromosome-specific DNA probes were used to study different aspects of the genesis of sex-chromosome monosomy. Using X-linked RFLPs, we studied the parental origin of the single X chromosome in 35 spontaneously aborted and five live-born 45,X conceptions. We determined the origin in 35 cases; 28 ha...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Hassold T,Benham F,Leppert M

    更新日期：1988-04-01 00:00:00

  • Faster sequential genetic linkage computations.

    abstract：:Linkage analysis using maximum-likelihood estimation is a powerful tool for locating genes. As available data sets have grown, the computation required for analysis has grown exponentially and become a significant impediment. Others have previously shown that parallel computation is applicable to linkage analysis and ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Cottingham RW Jr,Idury RM,Schäffer AA

    更新日期：1993-07-01 00:00:00

  • Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.

    abstract：:A population-based study of hemophilia B mutations was conducted in the United Kingdom in order to construct a national confidential database of mutations and pedigrees to be used for the provision of carrier and prenatal diagnoses based on mutation detection. This allowed the direct estimate of overall (micro), male ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302651

    authors： Green PM,Saad S,Lewis CM,Giannelli F

    更新日期：1999-12-01 00:00:00

  • Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

    abstract：:Timely molecular diagnosis of RB1 mutations enables earlier treatment, lower risk, and better health outcomes for patients with retinoblastoma; empowers families to make informed family-planning decisions; and costs less than conventional surveillance. However, complexity has hindered clinical implementation of molecu...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/345651

    authors： Richter S,Vandezande K,Chen N,Zhang K,Sutherland J,Anderson J,Han L,Panton R,Branco P,Gallie B

    更新日期：2003-02-01 00:00:00

  • Canine behavioral genetics: pointing out the phenotypes and herding up the genes.

    abstract：:An astonishing amount of behavioral variation is captured within the more than 350 breeds of dog recognized worldwide. Inherent in observations of dog behavior is the notion that much of what is observed is breed specific and will persist, even in the absence of training or motivation. Thus, herding, pointing, trackin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ajhg.2007.12.001

    authors： Spady TC,Ostrander EA

    更新日期：2008-01-01 00:00:00

  • A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.

    abstract：:A subset of nuclear-encoded RNAs has to be imported into mitochondria for the proper replication and transcription of the mitochondrial genome and, hence, for proper mitochondrial function. Polynucleotide phosphorylase (PNPase or PNPT1) is one of the very few components known to be involved in this poorly characterize...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.09.002

    authors： von Ameln S,Wang G,Boulouiz R,Rutherford MA,Smith GM,Li Y,Pogoda HM,Nürnberg G,Stiller B,Volk AE,Borck G,Hong JS,Goodyear RJ,Abidi O,Nürnberg P,Hofmann K,Richardson GP,Hammerschmidt M,Moser T,Wollnik B,Koehler CM

    更新日期：2012-11-02 00:00:00

  • MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population.

    abstract：:Hereditary nonpolyposis colorectal cancer (HNPCC) accounts for approximately 2% of all colorectal cancer (CRC) cases and is the most common hereditary CRC syndrome. We have previously reported a high incidence of microsatellite instability (MSI) and germline mismatch repair (MMR) gene mutations in young Hong Kong Chin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/383591

    authors： Chan TL,Chan YW,Ho JW,Chan C,Chan AS,Chan E,Lam PW,Tse CW,Lee KC,Lau CW,Gwi E,Leung SY,Yuen ST

    更新日期：2004-05-01 00:00:00

  • De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

    abstract：:Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are associated with developmental delay, intellectual disability, and defects involving the brain, eye, ear, heart, and kidney. Arginine-glutamic acid dipeptide repeats (RERE) is located in the proximal 1p36 critical region. RERE is a widely-exp...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.03.002

    authors： Fregeau B,Kim BJ,Hernández-García A,Jordan VK,Cho MT,Schnur RE,Monaghan KG,Juusola J,Rosenfeld JA,Bhoj E,Zackai EH,Sacharow S,Barañano K,Bosch DGM,de Vries BBA,Lindstrom K,Schroeder A,James P,Kulch P,Lalani SR,van

    更新日期：2016-05-05 00:00:00

  • OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data.

    abstract：:RNA sequencing (RNA-seq) is gaining popularity as a complementary assay to genome sequencing for precisely identifying the molecular causes of rare disorders. A powerful approach is to identify aberrant gene expression levels as potential pathogenic events. However, existing methods for detecting aberrant read counts ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.10.025

    authors： Brechtmann F,Mertes C,Matusevičiūtė A,Yépez VA,Avsec Ž,Herzog M,Bader DM,Prokisch H,Gagneur J

    更新日期：2018-12-06 00:00:00

  • Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism.

    abstract：:Attention-deficit/hyperactivity disorder (ADHD) is the most commonly diagnosed behavioral disorder in childhood and likely represents an extreme of normal behavior. ADHD significantly impacts learning in school-age children and leads to impaired functioning throughout the life span. There is strong evidence for a gene...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/342732

    authors： Smalley SL,Kustanovich V,Minassian SL,Stone JL,Ogdie MN,McGough JJ,McCracken JT,MacPhie IL,Francks C,Fisher SE,Cantor RM,Monaco AP,Nelson SF

    更新日期：2002-10-01 00:00:00

  • Genome-wide comparison of African-ancestry populations from CARe and other cohorts reveals signals of natural selection.

    abstract：:The study of recent natural selection in human populations has important applications to human history and medicine. Positive natural selection drives the increase in beneficial alleles and plays a role in explaining diversity across human populations. By discovering traits subject to positive selection, we can better...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.07.025

    authors： Bhatia G,Patterson N,Pasaniuc B,Zaitlen N,Genovese G,Pollack S,Mallick S,Myers S,Tandon A,Spencer C,Palmer CD,Adeyemo AA,Akylbekova EL,Cupples LA,Divers J,Fornage M,Kao WH,Lange L,Li M,Musani S,Mychaleckyj JC,Og

    更新日期：2011-09-09 00:00:00

  • Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26.

    abstract：:Moyamoya disease is characterized by bilateral stenosis and/or occlusion of the terminal portion of the internal carotid artery. Moyamoya disease is prevalent among patients <10 years of age. Although most cases appear to be sporadic, approximately 10% occur as familial cases. The incidence of familial cases has been ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302243

    authors： Ikeda H,Sasaki T,Yoshimoto T,Fukui M,Arinami T

    更新日期：1999-02-01 00:00:00

  • Walking the interactome for prioritization of candidate disease genes.

    abstract：:The identification of genes associated with hereditary disorders has contributed to improving medical care and to a better understanding of gene functions, interactions, and pathways. However, there are well over 1500 Mendelian disorders whose molecular basis remains unknown. At present, methods such as linkage analys...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2008.02.013

    authors： Köhler S,Bauer S,Horn D,Robinson PN

    更新日期：2008-04-01 00:00:00

  • Functional studies of a germ-line polymorphism at codon 47 within the p53 gene.

    abstract：:A rare germ-line polymorphism in codon 47 of the p53 gene replaces the wild-type proline (CCG) with a serine (TCG). Restriction analysis of 101 human samples revealed the frequency of the rare allele to be 0% (n = 69) in Caucasians and 4.7% (3/64, n = 32) among African-Americans. To investigate the consequence of this...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Felley-Bosco E,Weston A,Cawley HM,Bennett WP,Harris CC

    更新日期：1993-09-01 00:00:00

  • FUdR induction of the X chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibition.

    abstract：:Experiments designed to illuminate the mechanism by which folic acid and thymidine inhibit expression of the Xq28 fragile site in human lymphocytes are described. The fragile site is induced by 5-fluorodeoxyuridine (FUdR), a potent inhibitor of thymidylate synthetase, in the presence of otherwise inhibiting concentrat...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Glover TW

    更新日期：1981-03-01 00:00:00

  • A high-density admixture map for disease gene discovery in african americans.

    abstract：:Admixture mapping (also known as "mapping by admixture linkage disequilibrium," or MALD) provides a way of localizing genes that cause disease, in admixed ethnic groups such as African Americans, with approximately 100 times fewer markers than are required for whole-genome haplotype scans. However, it has not been pos...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/420856

    authors： Smith MW,Patterson N,Lautenberger JA,Truelove AL,McDonald GJ,Waliszewska A,Kessing BD,Malasky MJ,Scafe C,Le E,De Jager PL,Mignault AA,Yi Z,De The G,Essex M,Sankale JL,Moore JH,Poku K,Phair JP,Goedert JJ,Vlahov D,

    更新日期：2004-05-01 00:00:00