Results 81 to 90 of about 277,505 (282)

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Mapping quantitative trait loci underlying body weight changes that act at different times during high‐fat diet challenge in collaborative cross mice

Animal Models and Experimental Medicine, EarlyView.
Over one billion people worldwide suffer from obesity, and the number is continually rising. Animal models, especially mouse models, are crucial to identifying the genetic components of complex disorders and exploring the potential applications of these genetic findings.
Hanifa J. Abu‐Toamih Atamni, Iqbal M. Lone, Ilona Binenbaum, Kareem Midlej, Eleftherios Pilalis, Richard Mott, Aristotelis Chatziioannou, Fuad A. Iraqi   +7 more
wiley   +1 more source

Association between Plasma P‐tau217 and Alzheimer's Copathology and Cognitive Decline in Parkinson's Disease

Annals of Neurology, EarlyView.
Objective Clinically relevant Alzheimer's disease co‐pathology is common in Lewy body disorders. Plasma P‐tau217 is a sensitive biomarker for amyloid and tau pathology in Alzheimer's disease. The objective was to determine if plasma P‐tau217 associates with Alzheimer's disease co‐pathology and cognition in Lewy body disorders. Methods Participants had (
Thomas F. Tropea, Patricia Aldea Stevenson, Matthew Flitter, David Meehan, Amanda Morris, Ming Lu, Leonardo Iaccarino, Emily C. Collins, Michael E. Hodsdon, David Irwin, Meredith Spindler, Andres Deik, Nabila Dahodwala, Katheryn A.Q. Cousins, David A. Wolk, Leslie Shaw, Daniel Weintraub, Edward B. Lee, Alice Chen‐Plotkin, Mark Mintun, Andrew Siderowf   +20 more
wiley   +1 more source

Phylogeography of Two Species of Marine Sculpins [PDF]

, 2013
Undergraduate Research and Scholarly Activity (URSA) Spring Project ...
Bailey, Lauren
core  

Using haplotype differentiation among hierarchically structured populations for the detection of selection signatures

, 2012
The detection of molecular signatures of selection is one of the major concerns of modern population genetics. A widely used strategy in this context is to compare samples from several populations, and to look for genomic regions with outstanding genetic
Boitard, Simon, Fariello, Marìa Inès, Naya, Hugo, SanCristobal, Magali, Servin, Bertrand   +4 more
core   +3 more sources

Biochemical and Immunohistochemical Associations of TDP‐43 and Cryptic RNA With Hippocampal and Amygdala Volumetrics in Alzheimer's Disease

Annals of Neurology, EarlyView.
Objective Immunohistochemically (IHC) measured transactive response DNA‐binding protein 43 (TDP‐43) inclusions are observed in Alzheimer's disease (AD) and are associated with medial temporal lobe atrophy. Accumulation of cryptic exons occurs in AD in response to TDP‐43 pathology.
Hossam Youssef, Rodolfo G. Gatto, Nikhil B. Ghayal, Virginia Estades Ayuso, Karen R. Jansen‐West, Judith A. Dunmore, Yuping Song, Mei Yue, Casey N. Cook, Michael DeTure, Bailey D. Rawlinson, Monica Castanedes‐Casey, Clifford R. Jack Jr, Ronald C. Petersen, Dennis W. Dickson, Leonard Petrucelli, Jennifer L. Whitwell, Mercedes Prudencio, Keith A. Josephs   +18 more
wiley   +1 more source

Detecting cryptic ghost lineage introgression in four‐taxon genomic datasets

Applications in Plant Sciences, EarlyView.
Abstract Premise Hybridization and introgression are pervasive evolutionary forces that have played fundamental roles in shaping the diversity of wild and domesticated plants. Four‐taxon tests for introgression provide a reliable framework for detecting signatures of ancient introgression from genomic data, which have played an important role in ...
Evan S. Forsythe, Blaine S. Pappa, Darren A. Clavette, Devin Y. Mendoza   +3 more
wiley   +1 more source

Exploring the Importance of Single Nucleotide Polymorphisms of HSPA9 in DNA of Sarcoma Patients [PDF]

, 2013
The aim of this project was to identify genetic variants that may influence the risk and progression of sarcoma through targeted genotyping of HSPA9 gene. It is important to look at genetic variants in DNA samples because if a variant is determined to be
Hebert, Christine M
core   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source

Discovery of Single Nucleotide Polymorphisms in Complex Genomes Using SGSautoSNP

Biology, 2012
Single nucleotide polymorphisms (SNPs) are becoming the dominant form of molecular marker for genetic and genomic analysis. The advances in second generation DNA sequencing provide opportunities to identify very large numbers of SNPs in a range of ...
Jacqueline Batley, Kaitao Lai, Paul J. Berkman, Paul Visendi, Pradeep Ruperao, Sahana Manoli, Jiri Stiller, Hong Lee, Satomi Hayashi, Michał T. Lorenc, David Edwards   +10 more
doaj   +1 more source