Results 101 to 110 of about 2,978 (164)

Analysis of Immobilized Protein Unfolding and Molecular Dynamics Shows How pH, Glycosylation, and OCA3-Related Variants Influence Tyrp1's Stability and Function. [PDF]

Int J Mol Sci
Sabir W, Osuna I, Dolinska MB, Sergeev YV.   +3 more
europepmc   +1 more source

Kidney melanosis associated with a novel HSP-1 Hermansky-Pudlak oculocutaneous albinism mutation: a case report. [PDF]

BMC Nephrol
Ali AA, Saleem ZSM, Jabali SS, Ibrahim NMR, Hughson MD.   +4 more
europepmc   +1 more source

Oculocutaneous albinism in a patient with an <i>OCA2</i> variant: molecular and clinical insights. [PDF]

Asian Biomed (Res Rev News)
Neissi M, Al-Mozani SK, Al-Zaalan AR, Sanavi Shiri S, Sheikh-Hosseini M, Al-Badran AI, Nekouei E.   +6 more
europepmc   +1 more source

Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel <i>TYR</i> Variant. [PDF]

Clin Case Rep
Shihab RN, Hamid RT, Neissi M, Mohammadi-Asl J, Sheikh-Hosseini M, Nekouei E.   +5 more
europepmc   +1 more source

Rare phenotypes of white coat color in Simmental calves: genetic causes of syndromic forms of albinism and depigmentation. [PDF]

Mol Genet Genomics
Jacinto JGP, Leuenberger T, Hauser M, Häfliger IM, Seefried FR, Letko A, Drögemüller C.   +6 more
europepmc   +1 more source

Clinico-pathologic profile of skin cancers in oculocutaneous albinism at Universitas Academic Hospital. [PDF]

Health SA
Makuru MH, Maruma F, Ngwenya E, Mponda K.   +3 more
europepmc   +1 more source

Vesicular Transport Mediated by Endoplasmic Reticulum Stress Sensor BBF2H7 Orchestrates Melanin Production During Melanogenesis. [PDF]

Int J Mol Sci
Phan GH, Fujise K, Imaizumi K, Saito A.
europepmc   +1 more source

Typical presentation of autosomal recessive oculocutaneous albinism in two siblings. [PDF]

GMS Ophthalmol Cases
Nishant P, Aftab N, Saha B, Raj A.
europepmc   +1 more source