Results 71 to 80 of about 13,759 (208)

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 744-748, March 2026.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Neuropathology and diagnostics in food animals [PDF]

, 2012
Diseases of the central nervous system are relatively common in food animals. Potential causes include infectious agents, nutritional deficiencies, metabolic disorders, genetic defects, toxins, and idiopathic causes. Food animals are frequently raised in
Nietfeld, Jerome C.
core   +1 more source

Arthrogryposis multiplex congenita (AMC), a hereditary disease in swine, maps to Chromosome 5 by linkage analysis [PDF]

, 2018
Arthrogryposis multiplex congenita (AMC), defined as permanent joint contractures present at birth, is one of the most common congenital defects in piglets and other mammals.
Gebert, Stefen, Genini, Sem, Hagger, Christian, Kadarmideen, Haja, Malek, Massoud, Ménétrey, Frédéric, Neuenschwander, Stefan, Nguyen, Trung, Stranzinger, Gerald, Vögeli, Peter, Špilar, Špela   +10 more
core  

Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation [PDF]

, 2016
Distal arthrogryposis (DA) is a clinically and genetically heterogeneous disorder with multiple joint contractures. We describe a female DA patient with hand and foot deformities, and right-sided torticollis. Using exome sequencing, we identified a novel
Janković, Sunčana, Matsumoto, Naomichi, Miyake, Noriko, Ogata, Kazuhiro, Petrović, Davor, Shiina, Masaaki, Čulić, Vida, Đapić, Tomislav, Šimunović, Marko   +8 more
core   +1 more source

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

Journal of Clinical Laboratory Analysis, Volume 40, Issue 3, February 2026.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong, Misun Yang, Hyeon Jeong Kwon, Jooyoung Cha, Ja‐Hyun Jang, Sung Eun Wang, Eun Sun Lee, Mi‐Ae Jang   +7 more
wiley   +1 more source

An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation

Journal of Biochemical and Clinical Genetics, 2018
Background: LAMA1 gene is mutated in patients with Poretti-Boltshauser syndrome, which include mainly the characteristic neuroimaging findings of cerebellar dysplasia and cysts.
Ameur Ammari, Amal Alhashem, Hanen Abdelraouf, Fatma Alzahrani, Fowzan Sami Alkuraya, Brahim Tabarki   +5 more
doaj   +1 more source

Mouse models of nesprin-related diseases [PDF]

, 2018
Nesprins (nuclear envelope spectrin repeat proteins) are a family of multi-isomeric scaffolding proteins. Nesprins form the LInker of Nucleoskeleton-and-Cytoskeleton (LINC) complex with SUN (Sad1p/UNC84) domain-containing proteins at the nuclear envelope,
Akinrinade, Arsenovic, Attali, Baird, Banerjee, Baumann, Baye, Behrens, Can Zhou, Catherine M. Shanahan, Chen, Crisp, Derek T. Warren, Djinovic Carugo, Duong, Espigat-Georger, Fanin, Fridolfsson, Gimpel, González, Gough, Grady, Green, Gros-Louis, Guilluy, Haque, Haskell, Hockemeyer, Holt, Horn, Horn, Izumi, Johnson, Ketema, Ketema, Kosodo, Laquerriere, Lee, Lee, Li Rao, Lindeman, Luke, Mellad, Merrell, Mislow, Mitzner, Morgan, Morimoto, Neumann, Noreau, O'Roak, Olins, Ozaki, Puckelwartz, Puckelwartz, Qiuping Zhang, Rajgor, Rajgor, Razafsky, Razafsky, Razafsky, Razafsky, Razafsky, Rosenberg-Hasson, Roux, Shindo, Sosa, Sosa, Starr, Stierle, Stroud, Synofzik, Taniura, van Berlo, Voit, Warren, Warren, Wilhelmsen, Wilson, Winder, Wynshaw-Boris, Yang, Yu, Yu, Zhang, Zhang, Zhang, Zhang, Zhang, Zhang, Zhen, Zhong, Zhou, Zhou   +93 more
core   +1 more source

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing

Prenatal Diagnosis, EarlyView.
Aysegül Klapperich, Vaclava Skopova, Mert Karakaya, Clara Velmans, Christian Netzer, Brigitte Strizek, Lenka Steiner Mrazova, Marie Zikanova   +7 more
wiley   +1 more source

Developmental outcomes after soybean oil vs mixed‐oil intravenous lipid emulsions in neonates: A secondary analysis of a clinical trial

Journal of Parenteral and Enteral Nutrition, Volume 50, Issue 2, Page 228-235, February 2026.
Abstract Background Fatty acids make up a significant portion of brain mass. The choice of lipid injectable emulsion alters a patient's fatty acid profile. In neonates with intestinal failure dependent on parenteral nutrition, this is particularly concerning given their rapid brain development. Methods We randomly assigned 24 infants to receive soy oil
Katie A. Huff, Charles Vanderpool
wiley   +1 more source