Cargando…

Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis

Background: Ichthyoses are a large group of hereditary cornification disorders, which are both clinically and etiologically heterogeneous and affect mostly all the skin surface of the patients. Ichthyosis has its origin in an ancient Greek word “ichthys” meaning fish, this is because the ichthyosis...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fozia, Fozia, Nazli, Rubina, Alam Khan, Sher, Bari, Ahmed, Nasir, Abdul, Ullah, Riaz, Mahmood, Hafiz Majid, Sohaib, Muhammad, Alobaid, Abdulrahman, Ansari, Siddique A., Basit, Sulman, Khan, Saadullah
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7999895/ https://www.ncbi.nlm.nih.gov/pubmed/33807935 http://dx.doi.org/10.3390/genes12030373

Ejemplares similares

Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
por: Fozia, Fozia, et al.
Publicado: (2021)

Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa
por: Fozia, Fozia, et al.
Publicado: (2021)

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family
por: Almazroea, Abdulhadi, et al.
Publicado: (2023)

Effect of Lipid-Based Multiple Micronutrients Supplementation in Underweight Primigravida Pre-Eclamptic Women on Maternal and Pregnancy Outcomes: Randomized Clinical Trial
por: Sher, Nabila, et al.
Publicado: (2022)

Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report
por: Wang, Xiong, et al.
Publicado: (2018)

Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis
por: TANI, Naomi, et al.
Publicado: (2020)

Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene
por: Louhichi, Nacim, et al.
Publicado: (2012)

Whole Genome Sequencing instead of Whole Exome Sequencing is required to identify the Genetic Causes of Polycystic Ovary Syndrome in Pakistani families
por: Khan, Muhammad Jaseem, et al.
Publicado: (2018)

Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population
por: Macriz-Romero, Nicole, et al.
Publicado: (2023)

Unique variants in the FLG gene and FERMT1 gene in a Chinese patient with ichthyosis and Kindler syndrome
por: Zheng, Bo-wen, et al.
Publicado: (2019)

Detection of Novel Biallelic Causative Variants in COL7A1 Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Families
por: Fozia, Fozia, et al.
Publicado: (2022)

Ballodiolic Acid A and B: Two New ROS, ((•)OH), (ONOO(−)) Scavenging and Potent Antimicrobial Constituents Isolated from Ballota pseudodictamnus (L.) Benth.
por: , Fozia, et al.
Publicado: (2021)

Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report
por: Zeng, Jing, et al.
Publicado: (2022)

A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
por: Afzal, Sibtain, et al.
Publicado: (2020)

Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population
por: Esperón-Moldes, U. S., et al.
Publicado: (2019)

Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?
por: Zhang, Hanqian, et al.
Publicado: (2018)

Effective Antiplasmodial and Cytotoxic Activities of Synthesized Zinc Oxide Nanoparticles Using Rhazya stricta Leaf Extract
por: Najoom, Sanodia, et al.
Publicado: (2021)

GATA3 regulates FLG and FLG2 expression in human primary keratinocytes
por: Zeitvogel, Jana, et al.
Publicado: (2017)

Phyto-Extract-Mediated Synthesis of Silver Nanoparticles Using Aqueous Extract of Sanvitalia procumbens, and Characterization, Optimization and Photocatalytic Degradation of Azo Dyes Orange G and Direct Blue-15
por: Aslam, Madeeha, et al.
Publicado: (2021)

Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency
por: Almatrafi, Ahmed M., et al.
Publicado: (2023)

Straight and rigid flagellar hook made by insertion of the FlgG specific sequence into FlgE
por: Hiraoka, Koichi D., et al.
Publicado: (2017)

Role of Intrapancreatic SPINK1/Spink3 Expression in the Development of Pancreatitis
por: Ohmuraya, Masaki, et al.
Publicado: (2012)

The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3)
por: Rehman, Adil U, et al.
Publicado: (2022)

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation
por: Alallasi, Sami Raja, et al.
Publicado: (2019)

Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up
por: Almatrafi, Ahmad M., et al.
Publicado: (2023)

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family
por: Khan, Muhammad Jaseem, et al.
Publicado: (2018)

Sulfation of fulvestrant by human liver cytosols and recombinant SULT1A1 and SULT1E1
por: Edavana, Vineetha Koroth, et al.
Publicado: (2011)

Performance of SPINK1 and SPINK1‐based diagnostic model in detection of hepatocellular carcinoma
por: Wang, Fang, et al.
Publicado: (2021)

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene
por: Moltrasio, Chiara, et al.
Publicado: (2023)

A novel homozygous mutation of GJB2—A new variant of keratitis-ichthyosis-deafness syndrome?
por: Hamadah, Issam, et al.
Publicado: (2019)

Green Synthesis, Characterization, Enzyme Inhibition, Antimicrobial Potential, and Cytotoxic Activity of Plant Mediated Silver Nanoparticle Using Ricinus communis Leaf and Root Extracts
por: Gul, Anadil, et al.
Publicado: (2021)

Altered metabolomic states elicited by Flg22 and FlgII-28 in Solanum lycopersicum: intracellular perturbations and metabolite defenses
por: Zeiss, Dylan R., et al.
Publicado: (2021)

Collodion Baby with TGM1 gene mutation
por: Sharma, Deepak, et al.
Publicado: (2015)

TGM4: an immunogenic prostate-restricted antigen
por: Lopez-Bujanda, Zoila A, et al.
Publicado: (2021)

Development and validation of the Trust in Government measure (TGM)
por: Burns, Kathleen E., et al.
Publicado: (2023)

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
por: Zazo Seco, Celia, et al.
Publicado: (2017)

Ichthyosis
por: Young, A. A.
Publicado: (1910)

Urease and α-Chymotrypsin Inhibitory Activities and Molecular Docking Studies of Alkaloids Isolated from Medicinal Plant Isatis minima Bunge
por: Fozia, Fozia, et al.
Publicado: (2022)

Natural Variation for Responsiveness to flg22, flgII-28, and csp22 and Pseudomonas syringae pv. tomato in Heirloom Tomatoes
por: Veluchamy, Selvakumar, et al.
Publicado: (2014)

Comparative Study of Antimicrobial Activity of Silver, Gold, and Silver/Gold Bimetallic Nanoparticles Synthesized by Green Approach
por: Sher, Naila, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_sm4722mnifporbv2u57uv34vs8