Results 61 to 70 of about 1,305 (131)

Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnosticsResearch in context

EBioMedicine
Summary: Background: Decisions to split two or more phenotypic manifestations related to genetic variations within the same gene can be challenging, especially during the early stages of syndrome discovery.
Christopher C.Y. Mak, Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K. Christman, Elise Pisan, Martin M.C. Chui, Mianne Lee, Fiona Leduc, Jennifer C. Dempsey, Pedro A. Sanchez-Lara, Hannah M. Bombei, John A. Bernat, Laurence Faivre, Frederic Tran Mau-Them, Irene Valenzuela Palafoll, Natalie Canham, Ajoy Sarkar, Yuri A. Zarate, Bert Callewaert, Ewelina Bukowska-Olech, Aleksander Jamsheer, Andreas Zankl, Marjolaine Willems, Laura Duncan, Bertrand Isidor, Benjamin Cogne, Odile Boute, Clémence Vanlerberghe, Alice Goldenberg, Elliot Stolerman, Karen J. Low, Vianney Gilard, Jeanne Amiel, Angela E. Lin, Christopher T. Gordon, Dan Doherty, Peter M. Krawitz, Rosanna Weksberg, Tzung-Chien Hsieh, Brian H.Y. Chung   +40 more
doaj   +1 more source

Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report

Journal of Medical Case Reports
Background Helsmoortel-Van der Aa syndrome was officially documented in 2014. Helsmoortel-Van der Aa syndrome is an extremely rare complex neurodegenerative disorder characterized by reduced intellectual capacity, motor dysfunction, facial dysmorphism ...
Ebtesam Al-Enezi, Mohannad Alghamdi, Khaled Al-Enezi, Mohammed AlBalwi, William Davies, Wafaa Eyaid   +5 more
doaj   +1 more source

Clinical and genetic findings in autism spectrum disorders analyzed using exome sequencing

Frontiers in Psychiatry
Autism spectrum disorder (ASD) refers to a group of complex neurodevelopmental disorders and is characterized by impaired reciprocal social interaction and communication, as well as the presence of restricted interests and stereotyped and repetitive ...
Ana Blázquez, Ana Blázquez, Ana Blázquez, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, María I. Alvarez-Mora, María I. Alvarez-Mora, María I. Alvarez-Mora, Rosa Calvo, Rosa Calvo, Rosa Calvo, Rosa Calvo   +12 more
doaj   +1 more source

Oral Presentation

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Elucidating the roles of SOD3 correlated genes and reactive oxygen species in rare human diseases using a bioinformatic-ontology approach.

PLoS ONE
Superoxide Dismutase 3 (SOD3) scavenges extracellular superoxide giving a hydrogen peroxide metabolite. Both Reactive Oxygen Species diffuse through aquaporins causing oxidative stress and biomolecular damage.
Mark Stanworth, Shu-Dong Zhang
doaj   +1 more source

Osteocalcin activates lipophagy via the ADPN-AMPK/PPARα-mTOR signaling pathway in chicken embryonic hepatocyte

Poultry Science
: Fatty liver hemorrhage syndrome (FLHS) is the leading cause of noninfectious mortality in caged layers worldwide. Osteocalcin (OCN) is a protein secreted by osteoblasts, and its undercarboxylated form (ucOCN) acts as a multifunctional hormone that ...
W.J. Tu, Y.H. Zhang, X.T. Wang, M. Zhang, K.Y. Jiang, S. Jiang   +5 more
doaj   +1 more source

Identification of genetic and non-genetic modifiers of genomic imprinting through screening of imprinted DMR methylation in humans

Epigenetics & Chromatin
Background Genomic imprinting is required for normal development, and abnormal methylation of differentially methylated regions (iDMRs) controlling the parent of origin-dependent expression of the imprinted genes has been found in congenital disorders ...
Francesco Cecere, Raissa Relator, Michael Levy, Ankit Verma, Haley McConkey, Bruno Hay Mele, Laura Pignata, Carlo Giaccari, Emilia D’Angelo, Subham Saha, Abu Saadat, Angela Sparago, Claudia Angelini, Flavia Cerrato, Bekim Sadikovic, Andrea Riccio   +15 more
doaj   +1 more source

Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort

Molecular Autism
Background Specific learning disorders (SLDs) affect approximately 5% of school-age children. In France, genetic investigations of complex non-syndromic SLD cases include chromosomal microarray analysis and fragile X syndrome testing.
Eléonore Viora-Dupont, Julian Delanne, Aurore Garde, Sophie Nambot, Estelle Colin, Marie Bournez, Clémence Fauconnier-Fatus, Caroline Racine, Clément Simao De Souza, Céline Bernard, Agnès Maurer, Aurélie Espitalier, Christine Binquet, Marion Bouctot, Marie-Laure Humbert, Anne-Sophie Briffaut, Véronique Darmency, Patricia Plumet, Audrey Cotinaud-Ricou, Noémie Relin, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Frederic Tran Mau-Them, Anne-Sophie Denommé-Pichon, Hana Safraou, Antonio Vitobello, Christophe Philippe, Yannis Duffourd, Ange-Line Bruel, Christel Thauvin-Robinet, Laurence Faivre   +31 more
doaj   +1 more source

ADNP syndrome [PDF]

, 2020
openaire   +1 more source

Editorial: Epigenetic Mechanisms and Their Involvement in Rare Diseases

Frontiers in Genetics, 2021
Mojgan Rastegar, Dag H. Yasui
doaj   +1 more source