Cargando…

Identification and Functional Characterization of Mutation in FYCO1 in Families with Congenital Cataract

Congenital cataract (CC) causes a third of the cases of treatable childhood blindness worldwide. CC is a disorder of the crystalline lens which is established as clinically divergent and has complex heterogeneity. This study aimed to determine the genetic basis of CC. Whole blood was obtained from f...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ullah, Muhammad Ikram, Rehman, Zaira, Dad, Rubina, Alsrhani, Abdullah, Shakil, Muhammad, Ghanem, Heba Bassiony, Alameen, Ayman Ali Mohammed, Elsadek, Mohamed Farouk, Eltayeb, Lienda Bashier, Ullah, Sajjad, Atif, Muhammad
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10456301/ https://www.ncbi.nlm.nih.gov/pubmed/37629644 http://dx.doi.org/10.3390/life13081788

Ejemplares similares

Biological Role of Zinc in Liver Cirrhosis: An Updated Review
por: Ullah, Muhammad Ikram, et al.
Publicado: (2023)

Determination of serum tumor necrosis factor-alpha (TNF-α) levels in metabolic syndrome patients from Saudi population
por: Ullah, Muhammad Ikram, et al.
Publicado: (2021)

Mutations in FYCO1 identified in families with congenital cataracts
por: Iqbal, Hira, et al.
Publicado: (2020)

Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract
por: Saleem, Rani Saira, et al.
Publicado: (2022)

Loss of FYCO1 leads to cataract formation
por: Satoh, Kiyotoshi, et al.
Publicado: (2021)

Estimation of serum iron, serum lipids and serum liver enzymes in celiac disease patients of Saudi Arabia
por: Ullah, Muhammad Ikram, et al.
Publicado: (2022)

FYCO1 Frameshift Deletion in Wirehaired Pointing Griffon Dogs with Juvenile Cataract
por: Rudd Garces, Gabriela, et al.
Publicado: (2022)

Two New Variants in FYCO1 Are Responsible for Autosomal Recessive Congenital Cataract in Iranian Population
por: Shirzadeh, Ebrahim, et al.
Publicado: (2022)

FYCO1 gets autophagy on track
por: Leslie, Mitch
Publicado: (2010)

A Novel Mutation in the FYCO1 Gene Causing Congenital Cataract: Case Study of a Chinese Family
por: Mei, Shuping, et al.
Publicado: (2022)

Exploring the virulence potential of immune evasion cluster genes in methicillin-resistant Staphylococcus aureus from cancer patients
por: Bano, Abida, et al.
Publicado: (2023)

Gold Nanoparticles Inhibit PMA-Induced MMP-9 Expression via microRNA-204-5p Upregulation and Deactivation of NF-κBp65 in Breast Cancer Cells
por: Farhana, Aisha, et al.
Publicado: (2023)

The interleukin-10 family: Major regulators of the immune response against Plasmodium falciparum infections
por: Abosalif, Khalid Omer Abdalla, et al.
Publicado: (2023)

Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing
por: Walker, Susan, et al.
Publicado: (2018)

Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families
por: Shakil, Muhammad, et al.
Publicado: (2022)

FYCO1 Increase and Effect of Arimoclomol–Treatment in Human VCP–Pathology
por: Guettsches, Anne-Katrin, et al.
Publicado: (2022)

Nlp promotes autophagy through facilitating the interaction of Rab7 and FYCO1
por: Xiao, Wenchang, et al.
Publicado: (2021)

Glutathione, Cysteine, and D-Penicillamine Role in Exchange of Silver Metal from the Albumin Metal Complex
por: Alharthi, Nahed S., et al.
Publicado: (2022)

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review
por: Ullah, Muhammad Ikram
Publicado: (2022)

NINQ: Name-Integrated Query Framework for Named-Data Networking of Things
por: Rehman, Muhammad Atif Ur, et al.
Publicado: (2019)

Hierarchical Name-Based Mechanism for Push-Data Broadcast Control in Information-Centric Multihop Wireless Networks
por: Ullah, Rehmat, et al.
Publicado: (2019)

From Molecular Pathology of COVID 19 to Nigella Sativum as a Treatment Option: Scientific Based Evidence of Its Myth or Reality
por: Atif, Muhammad, et al.
Publicado: (2021)

Hesperetin, a Citrus Flavonoid, Attenuates LPS-Induced Neuroinflammation, Apoptosis and Memory Impairments by Modulating TLR4/NF-κB Signaling
por: Muhammad, Tahir, et al.
Publicado: (2019)

FYCO1 and autophagy control the integrity of the haploid male germ cell-specific RNP granules
por: Da Ros, Matteo, et al.
Publicado: (2016)

FYCO1 Regulates Cardiomyocyte Autophagy and Prevents Heart Failure Due to Pressure Overload In Vivo
por: Kuhn, Christian, et al.
Publicado: (2021)

Molecular analysis of bla(SHV), bla(TEM), and bla(CTX-M) in extended-spectrum β-lactamase producing Enterobacteriaceae recovered from fecal specimens of animals
por: Ejaz, Hasan, et al.
Publicado: (2021)

Magnesium and Zinc Oxide Nanoparticles from Datura alba Improve Cognitive Impairment and Blood Brain Barrier Leakage
por: Ullah, Habib, et al.
Publicado: (2022)

Hydrological and ecological impacts of run off river scheme; a case study of Ghazi Barotha hydropower project on Indus River, Pakistan
por: Inam Ullah, Ehsan, et al.
Publicado: (2023)

Synthesis and characterization of manganese ferrite from low grade manganese ore through solid state reaction route
por: Ahmad, Salar, et al.
Publicado: (2021)

Physicochemical Characterization of Finasteride Nanosystem for Enhanced Topical Delivery
por: Irfan, Malik Muhammad, et al.
Publicado: (2021)

N-(4-Hydroxyphenyl)benzenesulfonamide
por: Khan, Islam Ullah, et al.
Publicado: (2010)

Flavonoids as Prospective Neuroprotectants and Their Therapeutic Propensity in Aging Associated Neurological Disorders
por: Ayaz, Muhammad, et al.
Publicado: (2019)

Probing SARS-CoV-2 sequence diversity of Pakistani isolates
por: Rehman, Zaira, et al.
Publicado: (2021)

Footprints of SARS-CoV-2 genome diversity in Pakistan, 2020–2021
por: Rehman, Zaira, et al.
Publicado: (2022)

Towards Network Lifetime Enhancement of Resource Constrained IoT Devices in Heterogeneous Wireless Sensor Networks
por: din, Muhammad Salah ud, et al.
Publicado: (2020)

N-(2-Methoxyphenyl)benzenesulfonamide
por: Aziz-ur-Rehman,, et al.
Publicado: (2010)

Mathematical modeling and thermodynamics of Prandtl–Eyring fluid with radiation effect: a numerical approach
por: Ullah, Zakir, et al.
Publicado: (2021)

A Gait-Based Real-Time Gender Classification System Using Whole Body Joints
por: Azhar, Muhammad, et al.
Publicado: (2022)

Anchoring of Nanocomposites Based on Novel Metal Nanocomplexes/Nanocarbonaceous Surfaces and Assessing Their In Vivo Anticancer Effects on Ehrlich Ascites Tumor
por: Ghanem, Heba Bassiony, et al.
Publicado: (2022)

GWAS reveals genetic basis of a predisposition to severe COVID-19 through in silico modeling of the FYCO1 protein
por: Gusakova, Mariya S., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_2tsirg1mrf3hc8cgn5fhj0r6k0