Results 31 to 40 of about 236,698 (345)

An heuristic filtering tool to identify phenotype-associated genetic variants applied to human intellectual disability and canine coat colors [PDF]

, 2015
Background: Identification of one or several disease causing variant(s) from the large collection of variants present in an individual is often achieved by the sequential use of heuristic filters.
Bosmans, Tim, Broeckx, Bart, Coopman, Frank, Deforce, Dieter, Dingemanse, Walter, Gielen, Ingrid, Saunders, Jimmy, Van Nieuwerburgh, Filip, Verhoeven, Geert   +8 more
core   +5 more sources

Genome-wide and Mendelian randomisation studies of liver MRI yield insights into the pathogenesis of steatohepatitis [PDF]

, 2020
Background A non-invasive method to grade the severity of steatohepatitis and liver fibrosis is magnetic resonance imaging (MRI) based corrected T1 (cT1).
Banerjee, R, Banerjee, R, Bell, J.D., Bell, J.D., Hemingway, H., Hemingway, H., Hingorani, A.D., Hingorani, A.D., Kelly, M., Kelly, M., McGonigle, J., McGonigle, J., Neubauer, S., Neubauer, S., Nicholls, R.C., Nicholls, R.C., Parisinos, C.A., Parisinos, C.A., Patel, R.S., Patel, R.S., Thomas, E.L., Thomas, E.L., Wilman, H., Wilman, H., Yaghootkar, H., Yaghootkar, H.   +25 more
core   +3 more sources

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

Nuclear mutations affecting mitochondrial structure and function in Chlamydomonas [PDF]

, 1977
Wild type cells of the green alga Chlamydomonas reinhardtii can grow in the in the dark by taking up and respiring exogenously supplied acetate. Obligate photoautotrophic (dark dier, dk) mutants of this alga have been selected which grow at near wild ...
Boynton, J. E., Gillham, N. W., Wiseman, Andrew   +2 more
core   +1 more source

COVID-19 is associated with the risk of cardiovascular disease death: A two-sample Mendelian randomization study

Frontiers in Cardiovascular Medicine, 2022
ObjectiveThis study aimed to estimate the causal effects of Coronavirus disease 2019 susceptibility and hospitalization on cardiovascular disease death using two-sample Mendelian randomization analysis.MethodsWe used statistics from a genome-wide ...
Jia-peng Miao, Xiao-yu Gu, Rui-zheng Shi
doaj   +1 more source

InDelGT: An integrated pipeline for extracting indel genotypes for genetic mapping in a hybrid population using next‐generation sequencing data

Applications in Plant Sciences, Volume 10, Issue 6, November-December 2022., 2022
Abstract Premise Although several software packages are available for genotyping insertion/deletion (indel) polymorphisms in genomes using next‐generation sequencing data, simultaneously calling indel genotypes across many individuals for use in genetic mapping remains challenging. Methods and Results We present an integrated pipeline, InDelGT, for the
Zhiliang Pan, Jinpeng Zhang, Shengjun Bai, Zhiting Li, Chunfa Tong   +4 more
wiley   +1 more source

Lipid metabolism in pancreatic cancer: emerging roles and potential targets

Cancer Communications, Volume 42, Issue 12, Page 1234-1256, December 2022., 2022
Abstract Pancreatic cancer is one of the most serious health issues in developed and developing countries, with a 5‐year overall survival rate currently <9%. Patients typically present with advanced disease due to vague symptoms or lack of screening for early cancer detection.
Xinpeng Yin, Ruiyuan Xu, Jianlu Song, Rexiati Ruze, Yuan Chen, Chengcheng Wang, Qiang Xu   +6 more
wiley   +1 more source

The Mendelian Quarter [PDF]

Nature, 1904
A FEW weeks ago we heard in Section D at the Cambridge meeting of the British Association a paper by Mr. A. D. Darbishire on the bearing of his experiments in crossing Japanese waltzing and albino mice on Mendelian theory. He told us that on that theory we should expect a quarter of the offspring of the hybrids to be albinos—and we found them albinos ...
openaire   +3 more sources

Can we apply the Mendelian randomization methodology without considering epigenetic effects?

Emerging Themes in Epidemiology, 2009
Introduction Instrumental variable (IV) methods have been used in econometrics for several decades now, but have only recently been introduced into the epidemiologic research frameworks.
Karmaus Wilfried, Zhang Hongmei, Ogbuanu Ikechukwu U   +2 more
doaj   +1 more source

Association between serum cystatin C and early impairment of cardiac function and structure in type 2 diabetes patients with normal renal function

Clinical Cardiology, Volume 45, Issue 12, Page 1287-1296, December 2022., 2022
Abstract Background Type 2 diabetes mellitus (T2DM) patients may have cardiac remodeling and dysfunction from the early stage of disease. This study aimed to determine the association between cystatin C (CysC) and early cardiac functional or structural impairment in T2DM patients without renal dysfunction.
Zhuoshan Huang, Junlin Zhong, Shaozhao Zhang, Zhenyu Xiong, Yiquan Huang, Menghui Liu, Yifen Lin, Xiangbin Zhong, Xiaomin Ye, Xiaodong Zhuang, Xinxue Liao   +10 more
wiley   +1 more source