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 …
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 …
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
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 …
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 …
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 & …
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 …
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) …
auditory and pigmentary abnormalities. We investigated a cohort of 14 families (16 subjects) …
[PDF][PDF] Oculocutaneous albinism in Pakistan: A review
Oculocutaneous albinism (OCA) is an autosomal recessive disorder of abnormal melanin
biosynthesis characterized by hypopigmentation of skin, hair and eyes. The patients with …
biosynthesis characterized by hypopigmentation of skin, hair and eyes. The patients with …
Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families
Background Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder of
abnormal melanin synthesis, resulting in decreased or absent pigmentation of eyes, skin …
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 …
tyr) based on Förster Resonance Energy Transfer (FRET) was developed and was used to …