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 …
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 …
Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous …
Purpose To investigate eight previously unreported Pakistani families with genetically
undefined OCA for mutations in TYR. Methods Sanger sequencing of TYR has been …
undefined OCA for mutations in TYR. Methods Sanger sequencing of TYR has been …
An integrative investigation of developmental toxicities induced by triphenyltin in a larval coral reef fish, Amphiprion ocellaris
Y Hou, X Cai, Z Liang, D Duan, X Diao… - Science of The Total …, 2023 - Elsevier
Triphenyltin (TPT) is widely distributed on coastlines, which makes coral reef fish a potential
target of TPT pollution. However, the negative effects of TPT on coral reef fish remain poorly …
target of TPT pollution. However, the negative effects of TPT on coral reef fish remain poorly …
Identification of Potential Blind-Side Hypermelanosis-Related lncRNA–miRNA–mRNA Regulatory Network in a Flatfish Species, Chinese Tongue Sole (Cynoglossus …
Y Li, Y Hu, P Cheng, S Chen - Frontiers in Genetics, 2022 - frontiersin.org
Blind-side hypermelanosis has emerged as a major concern in commercial rearing
environments of the flatfish aquaculture industry. To date, the underlying molecular …
environments of the flatfish aquaculture industry. To date, the underlying molecular …
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early‐onset cataracts and congenital glaucoma
Four members of a three‐generation Czech family with early‐onset chorioretinal dystrophy
were shown to be heterozygous carriers of the n. 37C> T in MIR204. The identification of this …
were shown to be heterozygous carriers of the n. 37C> T in MIR204. The identification of this …
FRMD7 Gene Alterations in a Pakistani Family Associated with Congenital Idiopathic Nystagmus
Congenital idiopathic nystagmus (CIN) is an oculomotor disorder characterized by repetitive
and rapid involuntary movement of the eye that usually develops in the first six months after …
and rapid involuntary movement of the eye that usually develops in the first six months after …
Genetic analysis with pyrosequencing using loop pipetting and a light dependent resistor
F Iqbal, MI Shabbir - Analytical Methods, 2021 - pubs.rsc.org
DNA sequencing is among the most important techniques in biology to decipher the key
genetic players of health and disease. The existing laboratory instruments for DNA …
genetic players of health and disease. The existing laboratory instruments for DNA …
Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case
D He, X Liu, T Yao, J Hu, X Zheng… - Molecular Genetics & …, 2024 - Wiley Online Library
Background Oculocutaneous albinism type 4 (OCA4) is a rare autosomal recessive disorder
characterized by a reduction of pigmentation in skin, hair, and eyes, and OCA4 is mainly …
characterized by a reduction of pigmentation in skin, hair, and eyes, and OCA4 is mainly …
Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families
Oculocutaneous albinism (OCA) is associated with a wide range of clinical presentations
and has been categorized with syndromic and non-syndromic features. The most common …
and has been categorized with syndromic and non-syndromic features. The most common …