Results 131 to 140 of about 255,701 (284)

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

INFLUENCE OF TAQI POLYMORPHISM IN MELANOCORTIN RECEPTOR (MC4R) ON PIG SLAUGHTERING TRAITS [PDF]

Poljoprivreda, 2009
The aim of the research was to determine the influence of polymorphism in MC4R genes on slaughtering traits. The research was carried out on 60 crossbreeds of Large White and German Landrace in the dam line and of Duroc in the sire line.
Vladimir Margeta, Laura Vargović, Gordana Kralik, Goran Kušec   +3 more
doaj  

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish [PDF]

, 2017
Gao, Meng, Hu, Xuebin, Jiang, Tao, Li, Chang, Liu, Fei, Liu, Jing Yu, Liu, Mugen, Liu, Xiliang, Lu, Zhaojing, Shu, Xinhua, Soares, Dinesh C., Tang, Zhaohui, Weng, Jun, Xiao, Qing, Yang, Lifang, Yu, Shanshan   +15 more
core   +1 more source

Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy. [PDF]

, 2015
PurposeTo report potentially pathogenic mutations in the keratin 3 (KRT3) and keratin 12 (KRT12) genes in two individuals with clinically diagnosed Meesmann corneal dystrophy (MECD).MethodsSlit-lamp examination was performed on the probands and available
Aldave, Anthony J, Chen, Judy L, Chung, Duk-Won D, Deng, Sophie X, Frausto, Ricardo F, Gee, Jessica A, Gee, Katherine M, Lin, Benjamin R   +7 more
core   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Loss of the wild-type allele promotes carcinogenesis of bladder urothelial cells with p53 missense mutation [PDF]

Takashi Kobayashi, Akihiro Hamada, Yuki Kita, Toru Sakatani, Kenji Nakamura, Hideaki Takada, Ryosuke Ikeuchi, Shuhei Koike, Norihiko Masuda, Kaoru Murakami, Takeshi Sano, Takayuki Goto, Ryoichi Saito, Yuki Teramoto, Masakazu Fujimoto, Narumi Hatano, Mayumi Kamada, Osamu Ogawa   +17 more
openalex   +1 more source

Missense Mutations in the Fas Gene Resulting in Autoimmune Lymphoproliferative Syndrome: A Molecular and Immunological Analysis [PDF]

, 1997
Alessandra Bettinardi, Duilio Brugnoni, Eugenia Quirós-Roldán, Alberto Malagoli, Stefania La Grutta, Antonio Correra, Luigi D. Notarangelo   +6 more
openalex   +1 more source

Potassium channel subunits encoded by the KCNE gene family: physiology and pathophysiology of the MinK-related peptides (MiRPs). [PDF]

, 2001
Voltage-gated potassium channels provide tightly Controlled, ion-specific pathways across membranes and are key to the normal function of nerves muscles. They arise from the assembly of four pore-forming proteins called alpha-subunits.
Abbott, GW, Goldstein, SA
core  

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source