Results 181 to 190 of about 386,563 (253)

Additional PAX3 Variants for Dominant Blue Eyes in Cats. [PDF]

Anim Genet
Abitbol M, Eiselé T, Lipovenko E.
europepmc   +1 more source

Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders

Advanced Science, EarlyView.
An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee, Chanju Jung, Minjeong Kim, Narae Kim, Gue‐Ho Hwang, Soon‐Tae Lee, Kon Chu, Sang Kun Lee, Han‐Joon Kim, Jong‐Hee Chae, Sangsu Bae, Jangsup Moon   +11 more
wiley   +1 more source

The legacy of privilege: Social inheritance reverses sex differences in reproductive inequality in the spotted hyena. [PDF]

Sci Adv
Mosna M, Courtiol A, Naman P, Höner OP, Davidian E.   +4 more
europepmc   +1 more source

Reversing Macrophage Immunometabolic Dysfunction in Prolonged Infections Via a Glutaminolysis‐Fueled Restoration‐Based Hierarchically Selective Therapeutic System

Advanced Science, EarlyView.
A hierarchically selective immunotherapeutic nanoplatform, mGls@HEV‐MTP, selectively restores macrophage immunocompetence through GLS1‐mediated restoration of glutaminolysis‐fueled anaplerosis. Concurrently, it renders Staphylococcus aureus (S. aureus) more readily recognizable to the metabolically reprogrammed macrophages, thereby facilitating ...
Weinan Yang, Zihao An, Honglu Cai, Congsun Li, Jiaxuan Zou, Wushi Cui, Wentao Chen, Tao Zhang, Shicheng Wang, Zizhan Su, Jian Xiao, Tao Sun, Bin Hu, Min Cheng, Zhongru Gou, Jianbin Xu, An Liu, Haobo Wu   +17 more
wiley   +1 more source

A Pragmatist-Artifactualist view of experimental model organisms: the case of epigenetic inheritance. [PDF]

Hist Philos Life Sci
Martín-Villuendas M.
europepmc   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

Crossing experiments suggest a simple genetic basis of complex male self-sacrifice phenotypes in widow spiders. [PDF]

Biol Lett
Uludağ KÖ, Ivanov V, Krehenwinkel H, Schneider JM.   +3 more
europepmc   +1 more source

Increased Disarray of Extracellular Matrix Collagen‐I Fiber Network and Compromised Biomechanics in Aortae From Marfan‐Syndrome Mice Assessed Through Combined Opto‐Biomechatronics

Advanced Science, EarlyView.
Combined structure‐function assessment in aortic rings from Marfan mice using MechaMorph Opto‐Biomechatronics technology relates increased elasticity (stiffness) and dynamic viscosity and less ordered extracellular matrix 3D‐structure (collagen) as potential causes for impaired Windkessel function and compromised haemodynamics in Marfan's syndrome ...
Dominik Schneidereit, Anika Nagel, Vanessa I. T. Zwaans, Laureen Schurr, Jonas Ahr, Michael Haug, Anna Piluso, Alexandra Sporkova, Matthias Karck, Andreas H. Wagner, Oliver Friedrich   +10 more
wiley   +1 more source

The spectrum of copy number variation in the Pan-Canadian HostSeq databank. [PDF]

PLoS One
Aujla N, Thiruvahindrapuram B, Casalino S, Frangione E, Mahajan R, Di Iorio D, Fung CYJ, Jayachandran L, MacDonald G, Morgan G, Wolday D, Young J, Arshad M, Clausen M, Arnoldo S, Binnie A, Borgundvaag B, Chowdhary S, Dagher M, Devine L, Friedman SM, Gingras AC, Goneau LW, Khan Z, Lapadula E, Mazzulli T, McGeer A, McLeod S, Mighton C, Pugh TJ, Richardson D, Simpson J, Stern S, Taher A, Strug L, Bombard Y, Faghfoury H, Greenfeld E, CGEn HostSeq Initiative, Scherer SW, Taher J, Noor A, Lerner-Ellis J.   +42 more
europepmc   +1 more source