نتایج جستجو برای: founder effect

تعداد نتایج: 1647862  

Journal: :European Heart Journal 2022

Abstract Introduction The Mennonites are an Anabaptist population originated in Europe around 500 years ago. They a relatively isolated population, established Brazil 1930, which suffered three bottleneck effects that reduced their genetic variability and may increase the frequency of diseases. Purpose We aimed to clarify epidemiology heart disease this population. Methods Epidemiological, biom...

Journal: :South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2016
Heather Jessica Seymour Tasha Wainstein Shelley Macaulay Tabitha Haw Amanda Krause

BACKGROUND Germline pathogenic mutations in cancer susceptibility genes result in inherited cancer syndromes. In the Afrikaner population of South Africa (SA), three founder mutations in the BRCA genes that lead to hereditary breast and ovarian cancer syndrome (HBOCS) have been identified. OBJECTIVES To investigate the uptake and type of molecular testing performed on patients for HBOCS, to d...

2017
Sun Ah Choi Soo Yeon Kim Jihoo Yoon Joongmoon Choi Sung Sup Park Moon-Woo Seong Hunmin Kim Hee Hwang Ji Eun Choi Jong Hee Chae Ki Joong Kim Seunghyo Kim Yun-Jin Lee Sang Ook Nam Byung Chan Lim

BACKGROUND Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in approximately 75% of patients and are inherited in an autosomal recessive manner. We analyzed MLC1 mutations in five unrelated Korean patients with ...

Journal: :Netherlands Heart Journal 2009

2014
Jörn Bennewitz Robin Wellmann

Porcine F2 crosses derived from distantly or closely ‘related’ founder breeds have frequently been used for QTL mapping. Increasing marker density up to a maximum level can be done by re-sequencing and imputation techniques. This study investigated by means of simulations the mapping resolution and LD structure around causal genes of several F2 crosses with maximum marker density. It is shown t...

2013
RAJSHREE AGARWAL BENJAMIN A. CAMPBELL David Crow

Our study examines the mediating effect of spin-out team characteristics on the relationship between founder quality and parent and spin-out performance. Since the ability to transfer or recreate complementary assets is a critical determinant of performance, we theorize and show that founders with greater ability impact both parent firm and spin-out performance by assembling teams that represen...

Journal: :Developmental cell 2001
E H Chen E N Olson

Somatic muscle formation in Drosophila requires fusion of muscle founder cells with fusion-competent myoblasts. In a genetic screen for genes that control muscle development, we identified antisocial (ants), a gene that encodes an ankyrin repeat-, TPR repeat-, and RING finger-containing protein, required for myoblast fusion. In ants mutant embryos, founder cells and fusion-competent myoblasts a...

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