Results 251 to 260 of about 1,572,926 (319)

Distinguishing Ile/Leu Variant Ligands in the Immunopeptidome Using Hybrid EAD + CID Fragmentation (ExCID). [PDF]

Anal Chem
Dorvash M, Potriquet J, Ryumin P, Ayala R, Le N, Aranha R, Illing PT, Croft NP, Ramarathinam SH, Purcell AW.   +9 more
europepmc   +1 more source

Weakening the nuclear envelope: Lamin B receptor in melanoma metastasis

Molecular Oncology, EarlyView.
LBR‐driven nuclear fragility supports melanoma invasion. A: Melanocyte presents low LBR (Lamin B Receptor) levels, maintaining nuclear integrity and lamina‐chromatin tethering. B: During malignant progression, upregulation of LBR clusters at the INM (Inner Nuclear Membrane) during confined migration causes local lamina weakening and cholesterol ...
Francesca Lorenzini, Maria Caterina Mione   +1 more
wiley   +1 more source

A Genome-First Study of Familial Hypercholesterolemia Comparing African and European Ancestry Individuals. [PDF]

Circulation
Winters AH, Kelly MA, Syed MG, Bergquist T, Berry ASF, Mohammed N, Cawley D, Jones LK, Pejaver V, Gidding SS, Oetjens MT.   +10 more
europepmc   +1 more source

Pathogenic Ca_V1.1 Variants Cause Hyperpolarizing Shift of Depolarization-Induced Ca²⁺ Release in Malignant Hyperthermia Susceptibility. [PDF]

Commun Biol
Murayama T, Numaga-Tomita T, Miyoshi H, Ikeda T, Mukaida K, Kobayashi T, Kurebayashi N, Nakada T, Tomida T, Adachi-Akahane S, Tsutsumi YM, Yamada M, Sakurai T.   +12 more
europepmc   +1 more source

Mitochondrial complex I deficiency-associated diseases and models. [PDF]

Cell Mol Life Sci
Jentsch L, Ventura N.
europepmc   +1 more source

Before calling it FMF: MEFV variants of uncertain significance in autoinflammatory disease. [PDF]

Rheumatology (Oxford)
Cam V, Cingoz E, Ercan Emreol H, Unal D, Bayindir Y, Aliyev E, Erkan MO, Banak ON, Dara Kar HD, Basaran O, Bilginer Y, Sag E, Ozen S.   +12 more
europepmc   +1 more source

A Familial X-Linked Disorder of Sexual Development in Thoroughbred Horses Associated With a Novel Androgen Receptor Splice-Site Variant. [PDF]

Anim Genet
Letko A, Jagannathan V, Drögemüller C, Lühken G.   +3 more
europepmc   +1 more source

A Novel NPHS1-Associated Phenotype Characterized by Recurrent Transient Proteinuria. [PDF]

Case Rep Nephrol
Tanaka E, Konomoto T, Sakaguchi H, Kurogi J, Sakakibara N, Nozu K, Moritake H.   +6 more
europepmc   +1 more source