Results 131 to 140 of about 8,739 (269)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Genetic diversity, population structure and selective sweeps in Italian Leccese chickens

Poultry Science
Italy hosts a rich heritage of poultry genetic resources, leading to the development of several unique native chicken breeds. Among them, the Leccese (LEC) chicken breed requires urgent genetic characterization to support conservation, development, and ...
Medhat S. Saleh, Giusy Rusco, Filippo Cendron, Francesco Perini, Mauro Penasa, Emiliano Lasagna, Gerardo Centoducati, Aristide Maggiolino, Martino Cassandro, Antonio Camarda, Pasquale De Palo, Vincenzo Landi   +11 more
doaj   +1 more source

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

Animal Models and Experimental Medicine, EarlyView.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 more
wiley   +1 more source

Genome-wide characterisation of regions under intense selection based on runs of homozygosity in Charolais cattle [PDF]

, 2020
Submitted 2020-06-22 | Accepted 2020-07-20 | Available 2020-12-01https://doi.org/10.15414/afz.2020.23.mi-fpap.347-352In this study, 68 genotyped purebred cows and bulls of Charolais cattle were used to determine runs of homozygosity (ROH) for evaluation ...
Lehocká, Kristína, Olšanská, Barbora, Kasarda, Radovan, Moravčíková, Nina   +3 more
core  

Runs of homozygosity and selection signature analyses reveal putative genomic regions for artificial selection in layer breeding

BMC Genomics
Background The breeding of layers emphasizes the continual selection of egg-related traits, such as egg production, egg quality and eggshell, which enhance their productivity and meet the demand of market.
Xiaochang Li, Fangren Lan, Xiaoman Chen, Yiyuan Yan, Guangqi Li, Guiqin Wu, Congjiao Sun, Ning Yang   +7 more
doaj   +1 more source

Stem cell–based therapies for type 1 diabetes: Progress in differentiation, clinical translation, and immune protection

Animal Models and Experimental Medicine, EarlyView.
Directed differentiation of pluripotent stem cells into functional pancreatic β cells have emerged as a promising strategy for the radical treatment of type 1 diabetes, with preclinical and early clinical evidence demonstrating reversal of hyperglycemia and insulin independence.
Zifan Li, Yu Kang, Yuyu Niu
wiley   +1 more source

Humanized immune system animal models and their recent applications

Animal Models and Experimental Medicine, EarlyView.
In this review, we provide an updated and comprehensive overview of the current state of humanized immune system animal model research. We discuss the variety of techniques used to produce humanized mice with their respective strengths and weaknesses, and evaluate the advantages and limitations of these models, including issues with incomplete immune ...
Nicolas Skuli, Rudra B. Amin, A’ishah Bakayoko, Marisa Kruidenier, Sahara Aqui, Sarah J. Skuli, Terence P. Gade   +6 more
wiley   +1 more source

detectRUNS: Detect runs of homozygosity and runs of heterozygosity in diploid genomes [PDF]

, 2018
detectRUNS is a R package for the detection of runs of homozygosity (ROH/ROHom) and of heterozygosity (ROHet, a.k.a. “heterozygosity-rich regions”) in diploid genomes. ROH/ROHom were first studied in humans (e.g. McQuillan et al.
Cozzi, Paolo, Marras, Gabriele, Gaspa, Giustino, Biscarini, Filippo   +3 more
core  

Genomic signatures of environmental adaptation in Danzhou chickens

BMC Genomics
Background Danzhou chicken (DZC) is a native chicken breed endemic to Hainan Island, which is renowned for its superior meat quality and strong disease resistance.
X. F. Xie, J. W. Fan, Z. Y. Wang, Z. Q. Zhong, D. Y. Pan, L. G. Shi, Q. Xiao, G. Y. Hou   +7 more
doaj   +1 more source

Animal models in molecular biology research: Challenges, ethical imperatives, and the path to human‐relevant translation

Animal Models and Experimental Medicine, EarlyView.
The graphical abstract shows how molecular biology research has shifted from using traditional animal models toward using methods that are more relevant to humans. It points out the main problems, differences between species, difficulty in reproducing results, moral issues, and lack of infrastructure that make translational accuracy harder to achieve ...
Md. Shajid Hossain Rafi, Md. Taslim Sarker, Ferdous‐Ul‐Haque Joy, Shahriar Mohd Shams, Tahmina Foyez, Md. Abdul Mazid, Syed Masudur Rahman Dewan   +6 more
wiley   +1 more source