Clinical and mutation spectrum of autosomal recessive non-syndromic oculocutaneous albinism (nsOCA) in Pakistan: a review

MI Ullah - Genes, 2022 - mdpi.com
Oculocutaneous albinism (OCA) is an autosomal recessive syndromic and non-syndromic
defect with deficient or a complete lack of the melanin pigment. The characteristics of OCA …

Melanosome-targeting near-infrared fluorescent probe with large stokes shift for in situ quantification of tyrosinase activity and assessing drug effects on differently …

M Peng, Y Wang, Q Fu, F Sun, N Na… - Analytical …, 2018 - ACS Publications
Tyrosinase (TYR) plays a vital role in melanin biosynthesis and is widely regarded as a
relatively specific marker for melanocytic lesions which involve vitiligo, malignant cutaneous …

Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families

J Khan, S Asif, S Ghani, H Khan, MW Arshad… - BMC …, 2024 - Springer
Background Oculocutaneous albinism (OCA) is a genetically heterogeneous condition that
is associated with reduced or absent melanin pigment in the skin, hair, and eyes, resulting in …

Fast-response fluorescent probe with favorable water solubility for highly sensitive imaging of endogenous tyrosinase in living cells and zebrafish model

Z Li, X Xia, Y You, C Lu, G Yang, C Ma, J Nie… - Chinese Chemical …, 2021 - Elsevier
Tyrosinase (TYR) is an important polyphenolic oxidase enzyme and usually regards as a
biomarker of melanoma cancer. Highly effective tracking TYR activity in vivo will help to …

Biallelic TYR and TKFC variants in Egyptian patients with OCA1 and new expanded TKFC features

EA Ashaat, NN Esmaiel, SA El-Saiedi, NA Ashaat… - BMC genomics, 2024 - Springer
Background Oculocutaneous albinism type1 (OCA1) is caused by the TYR gene's
homozygous and compound heterozygous variants. TKFC gene variants cause triokinase & …

A colorimetric and near-infrared ratiometric fluorescent probe for the determination of endogenous tyrosinase activity based on cyanine aggregation

P Zhang, S Li, C Fu, Q Zhang, Y Xiao, C Ding - Analyst, 2019 - pubs.rsc.org
Melanoma is an aggressive malignant tumor that undergoes rapid growth and metastasis in
a short time; tyrosinase (TYR) is an important biomarker for melanoma diagnosis as it is over …

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome

PH Somashekar, KM Girisha, S Nampoothiri… - Clinical …, 2019 - Wiley Online Library
Waardenburg syndrome (WS) is a disorder of neural crest cell migration characterized by
auditory and pigmentary abnormalities. We investigated a cohort of 14 families (16 subjects) …

[PDF][PDF] Oculocutaneous albinism in Pakistan: A review

SA Shah, A Saeed, M Irshad, ME Babar… - J Cancer Sci …, 2018 - researchgate.net
Oculocutaneous albinism (OCA) is an autosomal recessive disorder of abnormal melanin
biosynthesis characterized by hypopigmentation of skin, hair and eyes. The patients with …

Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families

MW Arshad, GV Harlalka, S Lin, I D'Atri, S Mehmood… - Meta Gene, 2018 - Elsevier
Background Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder of
abnormal melanin synthesis, resulting in decreased or absent pigmentation of eyes, skin …

Self-assembling ratiometric fluorescent micelle nanoprobe for tyrosinase detection in living cells

J Wang, J Qian, Z Teng, T Cao, D Gong… - ACS Applied Nano …, 2019 - ACS Publications
Herein, a novel self-assembling ratiometric fluorescent micelle nanoprobe (NanoDPA-NMP-
tyr) based on Förster Resonance Energy Transfer (FRET) was developed and was used to …