Results 281 to 290 of about 724,095 (330)

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, EarlyView.
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

Exposure of <i>in vitro</i> maturing pig oocytes to exogenous interleukin-6 is associated with transcriptomic differences in the resulting blastocysts, with enrichment of developmental signaling pathways. [PDF]

Front Vet Sci
Garcia-Canovas M, Lopez-Jara A, Parrilla I, Gonzalez-Plaza A, Rodriguez-Martinez H, Gil MA, Cuello C, Martinez EA.   +7 more
europepmc   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Identifying Key Biomarkers in Celiac Disease through Analysis of Microarray Data. [PDF]

J Med Signals Sens
Vafadar A, Alashti SK, Alavimanesh S, Savardashtaki A.   +3 more
europepmc   +1 more source

Appraisal of Gene Expression‐Based Classifiers for Neuropsychiatric Disorders: A Meta‐Regression

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A substantial body of research examines the potential of gene‐expression‐based biomarkers for diagnosing and selecting treatments for neuropsychiatric disorders, yet no clear consensus has been reached regarding the influence of controllable factors such as study design and model selection on the performance of gene‐expression‐based ...
Ali Razavi, Brittany Arensman, Eric J. Barnett, Leo A. Lee, Stephen V. Faraone, Stephen J. Glatt, Jonathan L. Hess   +6 more
wiley   +1 more source

Differentially Expressed Genes Associated with the Development of Cervical Cancer. [PDF]

Int J Mol Sci
Alvarado-Camacho DA, Castillo-Velázquez R, Granados-López AJ, Hernández-López H, López-Hernández Y, Gutiérrez-Hernández R, Varela-Silva JA, Reyes-Estrada CA, Solorio-Alvarado CR, Sánchez-Rodríguez SH, García-López DA, López JA.   +11 more
europepmc   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Correlation and Overlap Between Claudin 18.2 and FGFR2b Overexpression: A Tissue Microarray Study With 1,538 Gastric Carcinomas. [PDF]

J Gastric Cancer
Ahn S, Hwang I, Kim KM.
europepmc   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

DHX36 plays an oncogenic role in breast cancer progression and invasiveness. [PDF]

Sci Rep
Wei C, Xu D, Cheng J, Zheng M, Li T, Yang J, He J, El-Far AH, Zhang L, Xiao X, He T, Fu J.   +11 more
europepmc   +1 more source