Results 171 to 180 of about 42,034 (274)

Ankyrin-2 [PDF]

, 2020
openaire   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR ‐Gene Family

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1286-1305, June 2026.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1306-1314, June 2026.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Impaired AIS plasticity in ankyrin-G mutant mice alters cortical excitability and behavior. [PDF]

Proc Natl Acad Sci U S A
Li M, Zhao B, Lu Z, Zhe L, Han Y, Chen Y, Wang H, Wang Y, Wu C, Zhang M, Chen K, Yang R.   +11 more
europepmc   +1 more source

Ankyrin Repeat [PDF]

, 2020
openaire   +1 more source

Ankyrin and the hemolytic anemia mutation, nb, map to mouse chromosome 8: presence of the nb allele is associated with a truncated erythrocyte ankyrin.

, 1990
Mice with normoblastosis, nb/nb, have a severe hemolytic anemia. The extreme fragility and shortened lifespan of the mutant erythrocytes result from a defective membrane skeleton.
White, R A, Lux, S E, Birkenmeier, C S, Barker, J E   +3 more
core  

Channel Dysfunction as the Basis for Comorbidities in Multiple Sclerosis and Depression

Archiv der Pharmazie, Volume 359, Issue 6, June 2026.
Ion channel remodelling induced by neuroinflammation in multiple sclerosis alters neuronal excitability and immune signalling, creating shared molecular pathways that link multiple sclerosis pathology to depression and reveal novel pharmacological targets.
Nicole Rychlik, Kay Jüngling, Sven G. Meuth, Thomas Budde, Marta Méndez‐Couz   +4 more
wiley   +1 more source

Molecular profiles of red blood cells across geographic, pathological, and age-related perspectives: translational insights. [PDF]

Front Med (Lausanne)
Almadhaani KY, Altaie AM, Hamoudi R.
europepmc   +1 more source

Kv7 and K2P Potassium Channels in Thalamocortical Function and Their Therapeutic Potential in Childhood Absence Epilepsy

Archiv der Pharmazie, Volume 359, Issue 6, June 2026.
Modulation of K2P and Kv7 channels has the potential to reduce hyperexcitability and hypersynchronicity within the thalamocortical system. This offers a new avenue to suppress spike and wave discharges, the electrophysiological hallmark of absence epilepsy.
Anushka Takhi, Guiscard Seebohm, Thomas Budde, Annika Lüttjohann   +3 more
wiley   +1 more source

Oncolytic myxoma virus and engineering strategies for advanced cancer immunotherapy. [PDF]

iScience
Trujillo Yeriomenko AD, Isaeva AS, Idota EE, Zhivoderov SP, Yurkov SG, Malogolovkin AS.   +5 more
europepmc   +1 more source