Results 111 to 120 of about 29,365 (193)

ITGA2B/ITGB3‐Related Macrothrombocytopenia Associated With Gain‐of‐Function Mutations in ITGA2B or ITGB3 Genes

open access: yesJournal of Cellular and Molecular Medicine, Volume 30, Issue 1, January 2026.
ABSTRACT Glanzmann thrombasthenia (GT) is an inherited hemorrhagic disorder characterised by impaired platelet functions, manifested clinically as spontaneous bleeding. It is usually inherited in an autosomal recessive manner. Platelet dysfunction in patients with GT is caused by quantitative and/or qualitative deficiencies in αIIbβ3, which result from
Jiao Wu   +14 more
wiley   +1 more source

A Syd and RUFY dynein adaptor complex mediates axonal circulation of dense core vesicles. [PDF]

open access: yesJ Cell Biol
Lund VK   +8 more
europepmc   +1 more source

Dominant spinal muscular atrophy linked mutations in the cargo binding domain of BICD2 result in altered interactomes and dynein hyperactivity. [PDF]

open access: yesElife
Neiswender H   +8 more
europepmc   +1 more source

The Rab7-Epg5 and Rab39-ema modules cooperatively position autophagosomes for efficient lysosomal fusions. [PDF]

open access: yesElife
Boda A   +9 more
europepmc   +1 more source

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