Results 151 to 160 of about 1,536 (226)

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 and Environmentally Induced Scalation Variation in Bisexual and Parthenogenetic Lizards. [PDF]

Biology (Basel)
Tarkhnishvili D, Kosman E, Barateli N, Iankoshvili G.   +3 more
europepmc   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

The diagnostic value of the circadian rhythm gene KLF10 in anxiety‐depressive disorders and its neuroimmune regulatory mechanisms

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the protective role and molecular mechanism of the circadian rhythm‐related gene KLF10, identified as a diagnostic biomarker and therapeutic target in anxiety‐depressive disorder. Model establishment and phenotypes: An anxiety‐depression model was successfully established by chronic restraint stress combined with ...
Anlan Liu, Weifeng Guo, Jianxiang Li, Tiange Zhang, Dan Xu   +4 more
wiley   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, EarlyView.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

Assessing Genetic Diversity and Population Structure of Western Honey Bees in the Czech Republic Using 22 Microsatellite Loci. [PDF]

Insects
Knoll A, Šotek M, Prouza J, Langová L, Přidal A, Urban T.   +5 more
europepmc   +1 more source

Maternal‐Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and subsequent reduction in the expression of survival motor neuron (SMN) protein. The disease is characterized by degeneration of α motor neurons and subsequent muscle atrophy.
Emma R. Sutton, Ariane Beauvais, Rebecca Yaworski, Hugh J. McMillan, Rashmi Kothary   +4 more
wiley   +1 more source

Statewide surveillance of tick-borne pathogens in ticks collected in Delaware using novel multiplex PCR assays. [PDF]

Int J Parasitol Parasites Wildl
Buoni MH, Kennedy AC, Hughes V, Biswas-Fiss E.   +3 more
europepmc   +1 more source

QTL analysis of <i>Malus baccata</i> 'Jackii'-derived offspring reveals a polygenic inheritance pattern of apple blotch resistance. [PDF]

Front Plant Sci
Pfeifer M, Peil A, Flachowsky H, Emeriewen OF, Wöhner TW.   +4 more
europepmc   +1 more source

Characterization of a novel unliked 12 X-STR typing assay for forensic purposes in an admixed Rio de Janeiro population sample. [PDF]

Genet Mol Biol
Mello ICTE, Simas MCDC, Silva R, Moura Neto RS.   +3 more
europepmc   +1 more source