MLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki syndrome.

abstract：:Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile hypotonia, gonadal hypoplasia, obsessive behaviour and neonatal feeding difficulties followed by hyperphagia, leading to profound obesity. PWS is due to a lack of paternal genetic information at 15q11-q13 (ref. 2). Five imprinted, paterna...

journal_title：Nature genetics

authors： Bielinska B,Blaydes SM,Buiting K,Yang T,Krajewska-Walasek M,Horsthemke B,Brannan CI

更新日期：2000-05-01 00:00:00

abstract：:The lipodystrophies are a group of disorders characterized by the absence or reduction of subcutaneous adipose tissue. Partial lipodystrophy (PLD; MIM 151660) is an inherited condition in which a regional (trunk and limbs) loss of fat occurs during the peri-pubertal phase. Additionally, variable degrees of resistance ...

journal_title：Nature genetics

authors： Shackleton S,Lloyd DJ,Jackson SN,Evans R,Niermeijer MF,Singh BM,Schmidt H,Brabant G,Kumar S,Durrington PN,Gregory S,O'Rahilly S,Trembath RC

更新日期：2000-02-01 00:00:00

abstract：:Advances in sequencing technologies have enabled the identification of mutations acquired by bacterial pathogens during infection. However, it remains unclear whether adaptive mutations fix in the population or lead to pathogen diversification within the patient. Here we study the genotypic diversity of Burkholderia d...

journal_title：Nature genetics

authors： Lieberman TD,Flett KB,Yelin I,Martin TR,McAdam AJ,Priebe GP,Kishony R

更新日期：2014-01-01 00:00:00

abstract：:Variation for metabolite composition and content is often observed in plants. However, it is poorly understood to what extent this variation has a genetic basis. Here, we describe the genetic analysis of natural variation in the metabolite composition in Arabidopsis thaliana. Instead of focusing on specific metabolite...

journal_title：Nature genetics

authors： Keurentjes JJ,Fu J,de Vos CH,Lommen A,Hall RD,Bino RJ,van der Plas LH,Jansen RC,Vreugdenhil D,Koornneef M

更新日期：2006-07-01 00:00:00

abstract：:Cell fate during development is defined by transcription factors that act as molecular switches to activate or repress specific gene expression programmes. The POU transcription factor Oct-3/4 (encoded by Pou5f1) is a candidate regulator in pluripotent and germline cells and is essential for the initial formation of a...

journal_title：Nature genetics

authors： Niwa H,Miyazaki J,Smith AG

更新日期：2000-04-01 00:00:00

abstract：:Recent research has uncovered an important role for de novo variation in neurodevelopmental disorders. Using aggregated data from 9,246 families with autism spectrum disorder, intellectual disability, or developmental delay, we found that ∼1/3 of de novo variants are independently present as standing variation in the ...

journal_title：Nature genetics

authors： Kosmicki JA,Samocha KE,Howrigan DP,Sanders SJ,Slowikowski K,Lek M,Karczewski KJ,Cutler DJ,Devlin B,Roeder K,Buxbaum JD,Neale BM,MacArthur DG,Wall DP,Robinson EB,Daly MJ

更新日期：2017-04-01 00:00:00

abstract：:Human synovial sarcomas contain a recurrent and specific chromosomal translocation t(X;18)(p11.2;q11.2). By screening a synovial sarcoma cDNA library with a yeast artificial chromosome spanning the X chromosome breakpoint, we have identified a hybrid transcript that contains 5' sequences (designated SYT) mapping to ch...

journal_title：Nature genetics

authors： Clark J,Rocques PJ,Crew AJ,Gill S,Shipley J,Chan AM,Gusterson BA,Cooper CS

更新日期：1994-08-01 00:00:00

abstract：:We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically interpreted translocations and inversions. We confirm that the recently described phenomenon of 'chromothripsis' (massive chromosomal shattering and reorganization) is not...

journal_title：Nature genetics

authors： Chiang C,Jacobsen JC,Ernst C,Hanscom C,Heilbut A,Blumenthal I,Mills RE,Kirby A,Lindgren AM,Rudiger SR,McLaughlan CJ,Bawden CS,Reid SJ,Faull RL,Snell RG,Hall IM,Shen Y,Ohsumi TK,Borowsky ML,Daly MJ,Lee C,Morton C

更新日期：2012-03-04 00:00:00

abstract：:There is increasing evidence showing that the stromal cells surrounding cancer epithelial cells, rather than being passive bystanders, might have a role in modifying tumor outgrowth. The molecular basis of this aspect of carcinoma etiology is controversial. Some studies have reported a high frequency of genetic aberra...

journal_title：Nature genetics

authors： Qiu W,Hu M,Sridhar A,Opeskin K,Fox S,Shipitsin M,Trivett M,Thompson ER,Ramakrishna M,Gorringe KL,Polyak K,Haviv I,Campbell IG

更新日期：2008-05-01 00:00:00

abstract：:Grain yield is controlled by quantitative trait loci (QTLs) derived from natural variations in many crop plants. Here we report the molecular characterization of a major rice grain yield QTL that acts through the determination of panicle architecture. The dominant allele at the DEP1 locus is a gain-of-function mutatio...

journal_title：Nature genetics

authors： Huang X,Qian Q,Liu Z,Sun H,He S,Luo D,Xia G,Chu C,Li J,Fu X

更新日期：2009-04-01 00:00:00

abstract：:Although ribosomes are ubiquitous and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein-coding RNAs involved in riboso...

journal_title：Nature genetics

authors： Jenkinson EM,Rodero MP,Kasher PR,Uggenti C,Oojageer A,Goosey LC,Rose Y,Kershaw CJ,Urquhart JE,Williams SG,Bhaskar SS,O'Sullivan J,Baerlocher GM,Haubitz M,Aubert G,Barañano KW,Barnicoat AJ,Battini R,Berger A,Blair EM

更新日期：2016-10-01 00:00:00

abstract：:We have previously shown that ASPP1 and ASPP2 are specific activators of p53; one mechanism by which wild-type p53 is tolerated in human breast carcinomas is through loss of ASPP activity. We have further shown that 53BP2, which corresponds to a C-terminal fragment of ASPP2, acts as a dominant negative inhibitor of p5...

journal_title：Nature genetics

authors： Bergamaschi D,Samuels Y,O'Neil NJ,Trigiante G,Crook T,Hsieh JK,O'Connor DJ,Zhong S,Campargue I,Tomlinson ML,Kuwabara PE,Lu X

更新日期：2003-02-01 00:00:00

abstract：:The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (alpha-subunit) and HEXB (beta-subunit) genes, respectively. Each gene encodes a subunit for the heterodimeric lysosomal enzyme, beta-hexosaminidase A (alpha beta), as well as for the homodimers beta-hexosaminidase B (beta bet...

journal_title：Nature genetics

authors： Sango K,McDonald MP,Crawley JN,Mack ML,Tifft CJ,Skop E,Starr CM,Hoffmann A,Sandhoff K,Suzuki K,Proia RL

更新日期：1996-11-01 00:00:00

abstract：:We report the 207-Mb genome sequence of the North American Arabidopsis lyrata strain MN47 based on 8.3× dideoxy sequence coverage. We predict 32,670 genes in this outcrossing species compared to the 27,025 genes in the selfing species Arabidopsis thaliana. The much smaller 125-Mb genome of A. thaliana, which diverged ...

journal_title：Nature genetics

authors： Hu TT,Pattyn P,Bakker EG,Cao J,Cheng JF,Clark RM,Fahlgren N,Fawcett JA,Grimwood J,Gundlach H,Haberer G,Hollister JD,Ossowski S,Ottilar RP,Salamov AA,Schneeberger K,Spannagl M,Wang X,Yang L,Nasrallah ME,Bergelson J

更新日期：2011-05-01 00:00:00

abstract：:Plants intimately associate with diverse bacteria. Plant-associated bacteria have ostensibly evolved genes that enable them to adapt to plant environments. However, the identities of such genes are mostly unknown, and their functions are poorly characterized. We sequenced 484 genomes of bacterial isolates from roots o...

journal_title：Nature genetics

authors： Levy A,Salas Gonzalez I,Mittelviefhaus M,Clingenpeel S,Herrera Paredes S,Miao J,Wang K,Devescovi G,Stillman K,Monteiro F,Rangel Alvarez B,Lundberg DS,Lu TY,Lebeis S,Jin Z,McDonald M,Klein AP,Feltcher ME,Rio TG,Grant

更新日期：2017-12-18 00:00:00

abstract：:Oligonucleotide microarray (DNA chip)-based hybridization analysis is a promising new technology which potentially allows rapid and cost-effective screens for all possible mutations and sequence variations in genomic DNA. Here, I review current strategies and uses for DNA chip-based resequencing and mutational analysi...

journal_title：Nature genetics

authors： Hacia JG

更新日期：1999-01-01 00:00:00

abstract：:Down syndrome confers a 20-fold increased risk of B cell acute lymphoblastic leukemia (B-ALL), and polysomy 21 is the most frequent somatic aneuploidy among all B-ALLs. Yet the mechanistic links between chromosome 21 triplication and B-ALL remain undefined. Here we show that germline triplication of only 31 genes orth...

journal_title：Nature genetics

authors： Lane AA,Chapuy B,Lin CY,Tivey T,Li H,Townsend EC,van Bodegom D,Day TA,Wu SC,Liu H,Yoda A,Alexe G,Schinzel AC,Sullivan TJ,Malinge S,Taylor JE,Stegmaier K,Jaffe JD,Bustin M,te Kronnie G,Izraeli S,Harris MH,Steve

更新日期：2014-06-01 00:00:00

abstract：:Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbidity. As is typical for many other multifactorial disorders, much of the heritability of SLE remains unknown. We identified a rare autosomal recessive form of SLE, in which autozygome analysis revealed a null mutation in th...

journal_title：Nature genetics

authors： Al-Mayouf SM,Sunker A,Abdwani R,Abrawi SA,Almurshedi F,Alhashmi N,Al Sonbul A,Sewairi W,Qari A,Abdallah E,Al-Owain M,Al Motywee S,Al-Rayes H,Hashem M,Khalak H,Al-Jebali L,Alkuraya FS

更新日期：2011-10-23 00:00:00

abstract：:Opisthorchis viverrini-related cholangiocarcinoma (CCA), a fatal bile duct cancer, is a major public health concern in areas endemic for this parasite. We report here whole-exome sequencing of eight O. viverrini-related tumors and matched normal tissue. We identified and validated 206 somatic mutations in 187 genes us...

journal_title：Nature genetics

authors： Ong CK,Subimerb C,Pairojkul C,Wongkham S,Cutcutache I,Yu W,McPherson JR,Allen GE,Ng CC,Wong BH,Myint SS,Rajasegaran V,Heng HL,Gan A,Zang ZJ,Wu Y,Wu J,Lee MH,Huang D,Ong P,Chan-on W,Cao Y,Qian CN,Lim KH,Ooi

更新日期：2012-05-06 00:00:00

abstract：:Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome (GHDD), a disorder of increased bone density, we identified mutations in TBXAS1, which encodes thromboxane synthase (TXAS). TXAS, an enzyme of the arachidonic acid cascade, produces thromboxane A(2) (TXA(2)). Platelets from subjects with ...

journal_title：Nature genetics

authors： Geneviève D,Proulle V,Isidor B,Bellais S,Serre V,Djouadi F,Picard C,Vignon-Savoye C,Bader-Meunier B,Blanche S,de Vernejoul MC,Legeai-Mallet L,Fischer AM,Le Merrer M,Dreyfus M,Gaussem P,Munnich A,Cormier-Daire V

更新日期：2008-03-01 00:00:00

abstract：:Comparisons of chromosome X and the autosomes can illuminate differences in the histories of males and females as well as shed light on the forces of natural selection. We compared the patterns of variation in these parts of the genome using two datasets that we assembled for this study that are both genomic in scale....

journal_title：Nature genetics

authors： Keinan A,Mullikin JC,Patterson N,Reich D

更新日期：2009-01-01 00:00:00

abstract：:With access to whole genome sequences for various organisms and imminent completion of the Human Genome Project, the entire process of discovery in molecular and cellular biology is poised to change. Massively parallel measurement strategies promise to revolutionize how we study and ultimately understand the complex b...

journal_title：Nature genetics

authors： Burley SK,Almo SC,Bonanno JB,Capel M,Chance MR,Gaasterland T,Lin D,Sali A,Studier FW,Swaminathan S

更新日期：1999-10-01 00:00:00

abstract：:The newly recognized ataxia-ocular apraxia 1 (AOA1; MIM 208920) is the most frequent cause of autosomal recessive ataxia in Japan and is second only to Friedreich ataxia in Portugal. It shares several neurological features with ataxia-telangiectasia, including early onset ataxia, oculomotor apraxia and cerebellar atro...

journal_title：Nature genetics

authors： Moreira MC,Barbot C,Tachi N,Kozuka N,Uchida E,Gibson T,Mendonça P,Costa M,Barros J,Yanagisawa T,Watanabe M,Ikeda Y,Aoki M,Nagata T,Coutinho P,Sequeiros J,Koenig M

更新日期：2001-10-01 00:00:00

abstract：:The genetic architectures of common, complex diseases are largely uncharacterized. We modeled the genetic architecture underlying genome-wide association study (GWAS) data for rheumatoid arthritis and developed a new method using polygenic risk-score analyses to infer the total liability-scale variance explained by as...

journal_title：Nature genetics

authors： Stahl EA,Wegmann D,Trynka G,Gutierrez-Achury J,Do R,Voight BF,Kraft P,Chen R,Kallberg HJ,Kurreeman FA,Diabetes Genetics Replication and Meta-analysis Consortium.,Myocardial Infarction Genetics Consortium.,Kathiresan S,Wijmenga

更新日期：2012-03-25 00:00:00

abstract：:DNA repair defects in the xeroderma pigmentosum (XP) group D complementation group can be associated with the clinical features of two quite different disorders; XP, a sun-sensitive and cancer-prone disorder, or trichothiodystrophy (TTD) which is characterized by sulphur-deficient brittle hair and a variety of other a...

journal_title：Nature genetics

authors： Broughton BC,Steingrimsdottir H,Weber CA,Lehmann AR

更新日期：1994-06-01 00:00:00

abstract：:Inactivation of TGF-beta family signaling is implicated in colorectal tumor progression. Using cis-Apc(+/Delta716) Smad4(+/-) mutant mice (referred to as cis-Apc/Smad4), a model of invasive colorectal cancer in which TGF-beta family signaling is blocked, we show here that a new type of immature myeloid cell (iMC) is r...

journal_title：Nature genetics

authors： Kitamura T,Kometani K,Hashida H,Matsunaga A,Miyoshi H,Hosogi H,Aoki M,Oshima M,Hattori M,Takabayashi A,Minato N,Taketo MM

更新日期：2007-04-01 00:00:00

abstract：:The human genome sequence has been finished to very high standards; however, more than 340 gaps remained when the finished genome was published by the International Human Genome Sequencing Consortium in 2004. Using fosmid resources generated from multiple individuals, we targeted gaps in the euchromatic part of the hu...

journal_title：Nature genetics

authors： Bovee D,Zhou Y,Haugen E,Wu Z,Hayden HS,Gillett W,Tuzun E,Cooper GM,Sampas N,Phelps K,Levy R,Morrison VA,Sprague J,Jewett D,Buckley D,Subramaniam S,Chang J,Smith DR,Olson MV,Eichler EE,Kaul R

更新日期：2008-01-01 00:00:00

abstract：:The diaphragm is an essential mammalian skeletal muscle, and defects in diaphragm development are the cause of congenital diaphragmatic hernias (CDHs), a common and often lethal birth defect. The diaphragm is derived from multiple embryonic sources, but how these give rise to the diaphragm is unknown, and, despite the...

journal_title：Nature genetics

authors： Merrell AJ,Ellis BJ,Fox ZD,Lawson JA,Weiss JA,Kardon G

更新日期：2015-05-01 00:00:00

abstract：:The development of a quantitative understanding of viral evolution and the fitness landscape in HIV-1 drug resistance is a formidable challenge given the large number of available drugs and drug resistance mutations. We analyzed a dataset measuring the in vitro fitness of 70,081 virus samples isolated from HIV-1 subty...

journal_title：Nature genetics

authors： Hinkley T,Martins J,Chappey C,Haddad M,Stawiski E,Whitcomb JM,Petropoulos CJ,Bonhoeffer S

更新日期：2011-05-01 00:00:00

abstract：:Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (OMIM #182960) is a heterogeneous group of disorders characterized by an almost exclusive degeneration of motor nerve fibers, predominantly in the distal part of the limbs. Silver syndrome (OMIM #270685) is a rare form of hereditary spastic pa...

journal_title：Nature genetics

authors： Windpassinger C,Auer-Grumbach M,Irobi J,Patel H,Petek E,Hörl G,Malli R,Reed JA,Dierick I,Verpoorten N,Warner TT,Proukakis C,Van den Bergh P,Verellen C,Van Maldergem L,Merlini L,De Jonghe P,Timmerman V,Crosby AH,Wagn

更新日期：2004-03-01 00:00:00