Cargando…

Biallelic Missense Mutations in the Integrin Alpha 3 Gene Causes Skin Fragility Without Structural Defects in Lungs and Kidneys

Detalles Bibliográficos
Autores principales:	LEE, Sang Gyun, KIM, Song Ee, KIM, Soo-Chan, LEE, Sang Eun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Society for Publication of Acta Dermato-Venereologica 2022
Materias:	Short Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631242/ https://www.ncbi.nlm.nih.gov/pubmed/34904685 http://dx.doi.org/10.2340/actadv.v101.897

Ejemplares similares

Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility
por: Vahidnezhad, Hassan, et al.
Publicado: (2020)

Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
por: Choi, Ji Young, et al.
Publicado: (2018)

Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations
por: Kuo, Che-Yuan, et al.
Publicado: (2023)

Interpreting missense mutations in Human TRIM5alpha by computational methods
por: Chan, Philip A
Publicado: (2008)

Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities
por: Yoo, Dae San, et al.
Publicado: (2020)

Missense mutation G296S in GATA4 is not responsible for cardiac septal defects
por: Ramegowda, Smitha, et al.
Publicado: (2007)

Sequencing Alpha-1 MZ Individuals Shows Frequent Biallelic Mutations
por: Foil, Kimberly E., et al.
Publicado: (2018)

The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings
por: Sowińska-Seidler, Anna, et al.
Publicado: (2020)

Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)
por: Umair, Muhammad, et al.
Publicado: (2019)

A missense polymorphism (rs11895564, Ala380Thr) of integrin alpha 6 is associated with the development and progression of papillary thyroid carcinoma in Korean population
por: Kim, Su Kang, et al.
Publicado: (2011)

ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges
por: MATTIOLI, Girolamo, et al.
Publicado: (2022)

Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome
por: Devlin, Laura A., et al.
Publicado: (2022)

Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction
por: Hayashi, Shion, et al.
Publicado: (2018)

Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism
por: Young, Natalie, et al.
Publicado: (2021)

Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants
por: Kane, Megan S., et al.
Publicado: (2019)

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus
por: Sansbury, Francis H, et al.
Publicado: (2015)

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
por: Guo, Long, et al.
Publicado: (2017)

Comparison of Cytokine Expression in Paediatric and Adult Psoriatic Skin
por: KIM, Jin Cheol, et al.
Publicado: (2020)

Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism
por: Burke, E.A., et al.
Publicado: (2018)

Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet
por: Numata-Uematsu, Yurika, et al.
Publicado: (2021)

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants
por: Popp, Bernt, et al.
Publicado: (2020)

Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients
por: Kamal, Naglaa M., et al.
Publicado: (2020)

Fatal systemic disorder caused by biallelic variants in FARSA
por: Kim, Soo Yeon, et al.
Publicado: (2022)

Dupilumab Therapy Improves Stratum Corneum Hydration and Skin Dysbiosis in Patients With Atopic Dermatitis
por: Lee, Seung-Ju, et al.
Publicado: (2021)

A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility
por: Jaffey, J. A., et al.
Publicado: (2019)

Low Handgrip Strength is Associated with Low Bone Mineral Density and Fragility Fractures in Postmenopausal Healthy Korean Women
por: Kim, Sang Wook, et al.
Publicado: (2012)

Resistance to Thyroid Hormone with Missense Mutation (V349M) in the Thyroid Hormone Receptor Beta Gene
por: Kim, Ji Yon, et al.
Publicado: (2008)

A Case of Fragile-X-Associated Tremor/Ataxia Syndrome Without Tremor
por: Lee, Woong-Woo, et al.
Publicado: (2023)

Plectin in Skin Fragility Disorders
por: Kiritsi, Dimitra, et al.
Publicado: (2021)

Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle
por: Boussaha, Mekki, et al.
Publicado: (2023)

Fragile skin microbiomes in megacities are assembled by a predominantly niche-based process
por: Kim, Hye-Jin, et al.
Publicado: (2018)

AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms
por: Ljungdahl, Alicia, et al.
Publicado: (2023)

Skin graft using MatriDerm® for plantar defects after excision of skin cancer
por: Kang, Sang-Woo, et al.
Publicado: (2019)

Mucosal Alpha-Papillomavirus (HPV89) in a rare skin lesion
por: Paolini, Francesca, et al.
Publicado: (2015)

Developmentally regulated expression of integrin alpha-6 distinguishes neural crest derivatives in the skin
por: Ma, Shize, et al.
Publicado: (2023)

High Quality Bioreplication of Intricate Nanostructures from a Fragile Gecko Skin Surface with Bactericidal Properties
por: Green, David William, et al.
Publicado: (2017)

Role of Integrin Alpha4 in Drug Resistance of Leukemia
por: Shishido, Stephanie, et al.
Publicado: (2014)

Management of Defects on Lower Extremities with the Use of Matriderm and Skin Graft
por: Choi, Jun-Young, et al.
Publicado: (2014)

Comparative Measurement of Biophysical Parameters in Consideration of Skin Graft Donor Site for Nasal Defects
por: Kim, Joo-Hak, et al.
Publicado: (2019)

Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects
por: Yang, Lu, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_dl15n9p8vsg501s777hv7jp7qt