Results 71 to 80 of about 127,421 (299)

Asociación de variantes en genes de las proteínas desacoplantes con diabetes mellitus tipo 2 en una población del nordeste colombiano

Biomédica: revista del Instituto Nacional de Salud, 2009
Introducción. Las proteínas desacoplantes pertenecen a la familia de proteínas transportadoras de aniones que desacoplan la producción de ATP de la respiración mitocondrial, causando pérdida de protones a través de la membrana mitocondrial interna y ...
Liliana Franco-Hincapié, Constanza Elena Duque, María Victoria Parra, Natalia Gallego, Alberto Villegas, Andrés Ruiz-Linares, Gabriel Bedoya   +6 more
doaj   +1 more source

Genome‐Wide Protein Interaction Analysis in Parasitic Gyrodactylus Flatworms–Fish Hosts System and Drug Target Identification

Advanced Science, EarlyView.
Genomic data offer a powerful tool for studying the molecular interactions between parasites and their hosts, but they remain scarce for parasitic monogenean flatworms. This study presents the first high‐quality phased genome assembly for monogeneans (Gyrodactylus kobayashii), and uses it to predict key interacting proteins between monogenean parasite ‐
Dong Zhang, Jie‐Mei Zhao, Chuan‐Yu Xiang, Yi‐Wen Ma, Hong‐Peng Lei, Yu‐Ying Shi, Shun Zhou, Xiaofei Zeng, Jinsong Chen, Fei Liu, Benhe Zeng, Rui Song, Ye Hu, Feng Zhang, Xiang Liu, Wen‐Xiang Li, Gui‐Tang Wang, Ivan Jakovlić   +17 more
wiley   +1 more source

A Random Forests Framework for Modeling Haplotypes as Mosaics of Reference Haplotypes

Frontiers in Genetics, 2019
Many genomic data analyses such as phasing, genotype imputation, or local ancestry inference share a common core task: matching pairs of haplotypes at any position along the chromosome, thereby inferring a target haplotype as a succession of pieces from reference haplotypes, commonly called a mosaic of reference haplotypes.
Faux, Pierre, Geurts, Pierre, Druet, Tom
openaire   +5 more sources

A Forward Genetics Strategy for High‐Throughput Gene Identification via Precise Image‐Based Phenotyping of an Indexed EMS Mutant Library

Advanced Science, EarlyView.
The GeneHunter‐Gene‐Level Association (GH‐GLA) pipeline enables high‐throughput gene identification in an indexed EMS population of wheat cultivar KN9204. It identifies 5905 trait‐associated wheat genes and validates key regulators of kernel weight and spikelet architecture via gene editing and haplotype analysis.
Haojie Wang, Fujun Sun, Zeyu Shi, Yufeng Yang, Yi Ding, Tengteng Zhang, Caihong Zhao, Jingzhong Xie, Yaqian Zhang, Caihua Li, Wenqiang Tang, Junming Li, Xigang Liu, Shusong Zheng, Ni Jiang, Fei He, Shuzhi Zheng   +16 more
wiley   +1 more source

Similar Outcome With Haploidentical, Matched Sibling, or Matched Unrelated Donor Hematopoietic Cell Transplantation for Adult Patients With Adverse‐Risk TP53‐Mutated Acute Myeloid Leukemia in First Remission: A Comparative Study From the Global Committee and the Acute Leukemia Working Party of the European Society for Blood and Marrow Transplantation

American Journal of Hematology, EarlyView.
ABSTRACT Given the dismal prognosis for patients with TP53‐mutated acute myeloid leukemia (AML), the optimal donor for those undergoing allogeneic hematopoietic cell transplantation (allo‐HCT) remains unclear. We retrospectively analyzed adult patients with TP53‐mutated AML who underwent first allo‐HCT in CR1 between 2010 and 2021.
Yuhua Ru, Jia Chen, Allain‐Thibeault Ferhat, Hélène Labussière‐Wallet, Tobias Gedde‐Dahl, Nicolaus Kröger, Gérard Socié, Ibrahim Yakoub‐Agha, Matthias Eder, Stephan Mielke, Depei Wu, Mohamad Mohty, Fabio Ciceri, Norbert‐Claude Gorin   +13 more
wiley   +1 more source

Novel Intragenic Duplication of GATAD2B in a Patient With GAND

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori, Steven Estes, Swetha Ramadesikan, Betsy Schmalz, Shayne Plourde, Maria E. Hernandez Gonzalez, Anthony R. Miller, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +9 more
wiley   +1 more source

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

Combining haplotypers

, 2007
Statistically resolving the underlying haplotype pair for a genotype measurement is an important intermediate step in gene mapping studies, and has received much attention recently. Consequently, a variety of methods for this problem have been developed.
Kääriäinen, Matti, Landwehr, Niels, Lappalainen, Sampsa, Mielikäinen, Taneli   +3 more
openaire   +2 more sources

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

The dystrophinopathies in Costa Rica

Revista de Biología Tropical, 2004
A five-years long study aiming to describe the basic genetic epidemiology of the dystrophinopathies in Costa Rica recruited 31 patients with clinical symptoms of DMD/BMD at the National Children’s Hospital (HNN).
Jorge Azofeifa
doaj