Results 141 to 150 of about 2,018 (241)

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

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia. [PDF]

Mov Disord
Maroofian R, Spoto G, Moualek D, Zaki MS, Biswas A, D'Arco F, Biglari S, Nikuei P, Gleeson JG, Tazir M, Ali Pacha L, Houlden H.   +11 more
europepmc   +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

Crystal structure of Ankyrin-G in complex with a fragment of Neurofascin reveals binding mechanisms required for integrity of the axon initial segment. [PDF]

J Biol Chem, 2022
He L, Jiang W, Li J, Wang C.
europepmc   +1 more source

Ankyrin Repeat [PDF]

, 2020
openaire   +1 more source

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

Potassium channel clustering: mechanisms shaping axonal excitability. [PDF]

Front Cell Neurosci
Escobedo G, Rasband MN.
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

Distribution of Voltage-Gated Sodium Channels and Scaffolding Proteins on Vestibular Calyx Ending Delineates the Axon Initial Segment. [PDF]

J Comp Neurol
Lysakowski A, Govindaraju AC, Price SD, Gaboyard-Niay S, Calin-Jageman I, Chidavaenzi RL, Eatock RA, Raphael RM, Goldberg JM.   +8 more
europepmc   +1 more source

Integrating antibody–drug conjugates into solid tumor oncology: Current standards and future directions

Cancer, Volume 132, Issue S1, 1 June 2026.
Abstract Antibody–drug conjugates (ADCs) represent a major advance in precision oncology, combining the selectivity of monoclonal antibodies with the cytotoxic potency of chemotherapy. By enabling targeted intracellular delivery of highly potent payloads, ADCs aim to maximize antitumor activity while minimizing systemic toxicity. This review summarizes
André Mansinho, Joana Albuquerque, Andreia Lopes, Emiliano Calvo   +3 more
wiley   +1 more source