Results 241 to 250 of about 80,852 (330)

Testing DAT1 and DRD4 Genes in Attention Deficit Hyperactivity Disorder Using a Wide Spectrum of Neurocognitive Batteries. [PDF]

Int J Dev Neurosci
Ünsel-Bolat G, Bolat H, Yıldırım S, Özgül S, Tahıllıoğlu A, Yazıcı KU, Bacanlı A, Parıltay E, Aygüneş-Jafari D, Kosova B, Rohde LA, Akın H, Ercan ES.   +12 more
europepmc   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Circulating pTau181 and Genomic Background in Dogs: A Pilot Study on Neurobiological Aging. [PDF]

Vet Med Int
Gazzano V, Fabbri MC, Capsoni S, Cantile C, Tinacci L, Gazzano A, Curadi MC, Cecchi F.   +7 more
europepmc   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Perspective for CAR T-Cell Therapy in Underrepresented Populations: A Hypothesis-Generating CD19 Genomic Analysis. [PDF]

J Pers Med
Al-Hussaini M, Al Okaily A, Alsmadi O.
europepmc   +1 more source

Whole-Genome Sequencing Reveals Population Structure, Genetic Diversity, and Selection Signatures in Kazakh Dromedary and Bactrian Camels. [PDF]

Animals (Basel)
Niyazbekova Z, Gao CY, Makhanbetuly N, Kassen K, Xu Y, Baimirzayev B, Zhang H, Muslimova Z, Orynkhanov K, Ussenbekov Y, Bai F, Wang J, Baneh H, Serikov Y, Liu P, Jiang Y.   +15 more
europepmc   +1 more source

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

Pedigree structure, inbreeding, and survival analysis in an Irish Wolfhound cohort. [PDF]

Companion Anim Health Genet
Ferrari C, Bernini F, Marelli SP, Poli M, Strillacci MG.   +4 more
europepmc   +1 more source

Impact of Highly Effective Modulator Therapy on Olfactory‐Specific Gene Expression in People With Cystic Fibrosis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis is common in people with cystic fibrosis (PwCF). Highly effective modulator therapy (HEMT) has been shown to improve sinonasal outcomes. However, prior studies failed to show improvement in objective olfaction with HEMT, and the impact of HEMT on olfactory‐specific quality of life has yet to be studied ...
Michael R. Xiang, Ankit Chauhan, Gina Hong, Denis Hadjiliadis, Daniel Dorgan, Michael M. Rey, Samantha Kane, James N. Palmer, Nithin D. Adappa, Noam A. Cohen, Michael A. Kohanski, Jennifer E. Douglas   +11 more
wiley   +1 more source