排序方式: 共有8条查询结果,搜索用时 15 毫秒
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Santen GW Aten E Sun Y Almomani R Gilissen C Nielsen M Kant SG Snoeck IN Peeters EA Hilhorst-Hofstee Y Wessels MW den Hollander NS Ruivenkamp CA van Ommen GJ Breuning MH den Dunnen JT van Haeringen A Kriek M 《Nature genetics》2012,44(4):379-380
We identified de novo truncating mutations in ARID1B in three individuals with Coffin-Siris syndrome (CSS) by exome sequencing. Array-based copy-number variation (CNV) analysis in 2,000 individuals with intellectual disability revealed deletions encompassing ARID1B in 3 subjects with phenotypes partially overlapping that of CSS. Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment. 相似文献
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A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16 总被引:27,自引:0,他引:27
S T Reeders M H Breuning K E Davies R D Nicholls A P Jarman D R Higgs P L Pearson D J Weatherall 《Nature》1985,317(6037):542-544
Adult polycystic kidney disease (APCKD) is a common and often lethal multi-organ disease with an autosomal dominant pattern of inheritance; approximately 1 in 1,000 people carry the mutant gene. The major pathological abnormality is the development and progressive enlargement of cysts in several organs including the liver, pancreas and spleen as well as the kidneys. The basic biochemical defect which leads to the formation of cysts remains unknown. Cyst development, which is not retarded by any known therapy, leads to irreversible renal failure and death at a mean age of 51 unless dialysis or transplantation are used. Patients with the disease account for 9% of chronic dialysis requirement. The first symptoms tend to occur in the fourth decade, after most patients have reproduced. Presymptomatic diagnosis depends on the ultrasonographic detection of cysts, but exclusion cannot be achieved by this means; 34% of at-risk patients in the second decade and 14% in the third will go on to develop cysts after negative diagnosis. The low sensitivity of diagnostic techniques in this critical age-range imposes severe limitations on genetic counselling and the condition cannot be identified prenatally. Hence we have searched for a linkage marker for APCKD; we show here that the APCKD locus is closely linked to the alpha-globin locus on the short arm of chromosome 16 (zeta = 25.85, theta = 0.05). 相似文献
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Gout AM;ADPKD Gene Variant Consortium Ravine D Harris PC Rossetti S Peters D Breuning M Henske EP Koizumi A Inoue S Shimizu Y Thongnoppakhun W Yenchitsomanus PT Deltas C Sandford R Torra R Turco AE Jeffery S Fontes M Somlo S Furu LM Smulders YM Mercier B Ferec C Burtey S Pei Y Kalaydjieva L Bogdanova N McCluskey M Geon LJ Wouters CH Reiterova J Stekrová J San Millan JL Aguiari G Del Senno L 《Nature genetics》2007,39(4):427-428
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Mutations in ABCC6 cause pseudoxanthoma elasticum 总被引:21,自引:0,他引:21
Bergen AA Plomp AS Schuurman EJ Terry S Breuning M Dauwerse H Swart J Kool M van Soest S Baas F ten Brink JB de Jong PT 《Nature genetics》2000,25(2):228-231
Pseudoxanthoma elasticum (PXE) is a heritable disorder of the connective tissue. PXE patients frequently experience visual field loss and skin lesions, and occasionally cardiovascular complications. Histopathological findings reveal calcification of the elastic fibres and abnormalities of the collagen fibrils. Most PXE patients are sporadic, but autosomal recessive and dominant inheritance are also observed. We previously localized the PXE gene to chromosome 16p13.1 (refs 8,9) and constructed a physical map. Here we describe homozygosity mapping in five PXE families and the detection of deletions or mutations in ABCC6 (formerly MRP6) associated with all genetic forms of PXE in seven patients or families. 相似文献
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Dauwerse JG Dixon J Seland S Ruivenkamp CA van Haeringen A Hoefsloot LH Peters DJ Boers AC Daumer-Haas C Maiwald R Zweier C Kerr B Cobo AM Toral JF Hoogeboom AJ Lohmann DR Hehr U Dixon MJ Breuning MH Wieczorek D 《Nature genetics》2011,43(1):20-22
We identified a deletion of a gene encoding a subunit of RNA polymerases I and III, POLR1D, in an individual with Treacher Collins syndrome (TCS). Subsequently, we detected 20 additional heterozygous mutations of POLR1D in 252 individuals with TCS. Furthermore, we discovered mutations in both alleles of POLR1C in three individuals with TCS. These findings identify two additional genes involved in TCS, confirm the genetic heterogeneity of TCS and support the hypothesis that TCS is a ribosomopathy. 相似文献
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In the modeling of microsegregation, the partition coefficient is usually calculated using data from the equilibrium phase diagrams. The aim of this study was to experimentally and theoretically analyze the partition coefficient in binary aluminum-copper alloys. The samples were analyzed by differential thermal analysis (DTA), which were melted and quenched from different temperatures during solidification. The mass fraction and composition of phases were measured by image processing and scanning electron microscopy (SEM) equipped with an energy-dispersive X-ray spectroscopy (EDS) unit. These data were used to calculate as the experimental partition coefficients with four different methods. The experimental and equilibrium partition coefficients were used to model the concentration profile in the primary phase. The modeling results show that the profiles calculated by the experimental partition coefficients are more consistent with the experimental profiles, compared to those calculated using the equilibrium partition coefficients. 相似文献
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O T Njajou N Vaessen M Joosse B Berghuis J W van Dongen M H Breuning P J Snijders W P Rutten L A Sandkuijl B A Oostra C M van Duijn P Heutink 《Nature genetics》2001,28(3):213-214
Hereditary hemochromatosis (HH) is a very common disorder characterized by iron overload and multi-organ damage. Several genes involved in iron metabolism have been implicated in the pathology of HH (refs. 1-4). We report that a mutation in the gene encoding Solute Carrier family 11, member A3 (SLC11A3), also known as ferroportin, is associated with autosomal dominant hemochromatosis. 相似文献
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Albers CA Paul DS Schulze H Freson K Stephens JC Smethurst PA Jolley JD Cvejic A Kostadima M Bertone P Breuning MH Debili N Deloukas P Favier R Fiedler J Hobbs CM Huang N Hurles ME Kiddle G Krapels I Nurden P Ruivenkamp CA Sambrook JG Smith K Stemple DL Strauss G Thys C van Geet C Newbury-Ecob R Ouwehand WH Ghevaert C 《Nature genetics》2012,44(4):435-9, S1-2
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