نتایج جستجو برای: sporadic region

تعداد نتایج: 557854  

2017
Tao Guan Xue Wang Li-Bin Zheng Hai-Jian Wu Yu-Feng Yao

BACKGROUND Keratoconus normally presents as a sporadic disease. Although different studies have found sequence variants of the visual system homeobox 1 (VSX1) gene associated with keratoconus in humans, no research has detected such variants in sporadic keratoconus patients from China. To investigate the possibility of VSX1 being a candidate susceptibility gene for Chinese patients with sporadi...

2005
P. A. Bernhardt C. A. Selcher C. Siefring M. Wilkens

During the SEEK-2 Rocket Campaign in August 2002, a Dual Band Beacon (DBB) transmitting to Ground Receivers provided unique data on E-Region electron densities. Information from two rocket beacons and four ground receivers yielded multiple samples of E-region horizontal and vertical variations. The radio beacon measurements were made at four sites (Uchinoura, Tarumizu, Tanegashima, Takazaki) in...

Journal: :Cancer research 2003
Ian Krop Paula Maguire Jaana Lahti-Domenici Gabriela Lodeiro Andrea Richardson Hrefna Kristin Johannsdottir Heli Nevanlinna Ake Borg Rebecca Gelman Rosa Björk Barkardottir Annika Lindblom Kornelia Polyak

We recently identified a candidate tumor suppressor gene, HIN-1, that is silenced due to methylation in the majority of sporadic breast carcinomas and is localized to 5q33-qter, an area frequently lost in BRCA1 tumors and thought to harbor a BRCA1 modifier gene. To establish whether germ-line mutations in HIN-1 may influence breast cancer risk, we sequenced the HIN-1 coding region in 10 familia...

2017
Bhavna S Rao Arokiasamy Tharigopala Sudhir R Rachapalli Rama Rajagopal Nagasamy Soumittra

PURPOSE Fuchs endothelial corneal dystrophy (FECD) is a progressive degenerative disease of the corneal endothelium. It is genetically heterogeneous and follows either an autosomal dominant or sporadic pattern of inheritance. Here, we have explored the association of four previously reported intronic single nucleotide polymorphisms and intronic CTG repeat expansions in TCF4 gene to FECD in an I...

Journal: :Human molecular genetics 2007
Christian P Kratz Doris Steinemann Charlotte M Niemeyer Brigitte Schlegelberger Ewa Koscielniak Udo Kontny Martin Zenker

Costello syndrome (CS; MIM 218040) is characterized by short stature, facial dysmorphism, cardiac defects and predisposition to embryonal rhabdomyosarcoma (CS/ERMS) and other neoplasias. CS is caused by germline mutations in the HRAS gene on chromosome 11p15.5, a region showing allelic imbalances in sporadic ERMS and CS/ERMS. The critical gene for ERMS development in this region is unknown. The...

Journal: :Neuro-degenerative diseases 2005
Andreas Papassotiropoulos Jean-Charles Lambert Fabienne Wavrant-De Vrièze M Axel Wollmer Heinz von der Kammer Johannes R Streffer Alessia Maddalena Kim-Dung Huynh Sibylle Wolleb Dieter Lutjohann Brigitte Schneider Dietmar R Thal Luigi M E Grimaldi Magdalini Tsolaki Elisabeth Kapaki Rivka Ravid Uwe Konietzko Thomas Hegi Thomas Pasch Hans Jung Heiko Braak Philippe Amouyel Evgeny I Rogaev John Hardy Christoph Hock Roger M Nitsch

Alzheimer's disease (AD) is the most common cause of dementia. It is characterized by beta-amyloid (A beta) plaques, neurofibrillary tangles and the degeneration of specifically vulnerable brain neurons. We observed high expression of the cholesterol 25-hydroxylase (CH25H) gene in specifically vulnerable brain regions of AD patients. CH25H maps to a region within 10q23 that has been previously ...

Journal: :Journal of neuropathology and experimental neurology 2001
L Kluwe C Hagel M Tatagiba S Thomas D Stavrou H Ostertag A von Deimling V F Mautner

Pilocytic astrocytomas classified as WHO grade I typically arise in childhood and upon complete surgical removal carry a favorable prognosis. Children with neurofibromatosis 1 (NF1) have a vastly increased risk for pilocytic astrocytomas, especially for those of the optic nerve. Using 4 intragenic NF1 microsatellite markers, we examined losses of NF1 alleles on the long arm of chromosome 17 in ...

Journal: :The Journal of clinical endocrinology and metabolism 1999
C Heppner M Reincke S K Agarwal P Mora B Allolio A L Burns A M Spiegel S J Marx

Adrenocortical tumors occur as sporadic tumors, as part of the multiple endocrine neoplasia type 1 (MEN1) syndrome or as part of other hereditary disorders. We recently cloned the MEN1 gene, a tumor-suppressor gene located on chromosome 11q13. Subsequently, we showed that sequential somatic inactivation of both alleles of the MEN1 gene contributes to the development of some sporadic endocrine n...

Journal: :Nucleic acids research 2000
J C Rice B W Futscher

BRCA1 expression is repressed by aberrant cytosine methylation in sporadic breast cancer. We hypothesized that aberrant cytosine methylation of the BRCA1 promoter was associated with the transcriptionally repressive effects of histone hypoacetylation and chromatin condensation. To address this question, we developed an in vitro model of study using normal cells and sporadic breast cancer cells ...

2014
Bin Lin Yufeng Wang Zhen Wang Huilian Tan Xianghua Kong Yang Shu Yuchao Zhang Yun Huang Yufei Zhu Heng Xu Zhiqiang Wang Ping Wang Guang Ning Xiangyin Kong Guohong Hu Landian Hu

Congenital heart disease (CHD) is the most common birth defect affecting the structure and function of fetal hearts. Despite decades of extensive studies, the genetic mechanism of sporadic CHD remains obscure. Deleted in liver cancer 1 (DLC1) gene, encoding a GTPase-activating protein, is highly expressed in heart and essential for heart development according to the knowledge of Dlc1-deficient ...

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