Cargando…

Recurrent KRT10 Variant in Ichthyosis with Confetti

Detalles Bibliográficos
Autores principales:	TAKEICHI, Takuya, SUGA, Yasushi, MIZUNO, Takashi, OKUNO, Yusuke, ICHIKAWA, Daisuke, KONO, Michihiro, LEE, John Y. W., MCGRATH, John A., AKIYAMA, Masashi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Society for Publication of Acta Dermato-Venereologica 2020
Materias:	Short Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9199913/ https://www.ncbi.nlm.nih.gov/pubmed/32556352 http://dx.doi.org/10.2340/00015555-3570

Ejemplares similares

Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2
por: Suzuki, Yuika, et al.
Publicado: (2022)

Ichthyosis with confetti: clinics, molecular genetics and management
por: Guerra, Liliana, et al.
Publicado: (2015)

Arginine‐ but not alanine‐rich carboxy‐termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti
por: Renz, Patricia, et al.
Publicado: (2019)

Frequent FOXA1-Activating Mutations in Extramammary Paget’s Disease
por: Takeichi, Takuya, et al.
Publicado: (2020)

Revertant Mutation Releases Confined Lethal Mutation, Opening Pandora's Box: A Novel Genetic Pathogenesis
por: Ogawa, Yasushi, et al.
Publicado: (2014)

The role of KRT17 in colorectal cancer
por: Ujiie, Daisuke, et al.
Publicado: (2021)

Mutation p.R156H of KRT10 responsible for severe phenotype of epidermolytic ichthyosis in a Chinese family
por: Li, Zhiliang, et al.
Publicado: (2014)

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
por: Serra, Gregorio, et al.
Publicado: (2022)

Analysis of KRT1, KRT10, KRT19, TP53 and MMP9 expression in pediatric and adult cholesteatoma
por: Palkó, Enikő, et al.
Publicado: (2018)

A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis
por: Caroppo, Francesca, et al.
Publicado: (2020)

KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease
por: Takeichi, Takuya, et al.
Publicado: (2020)

Avascular necrosis of the hip and diffuse idiopathic skeletal hyperostosis during long-term isotretinoin treatment of epidermolytic ichthyosis due to a novel deletion mutation in KRT10
por: Lamb, RC, et al.
Publicado: (2014)

Using the Product Social Impact Life Cycle Assessment (PSILCA) database for product comparison: Confetti case study
por: Tragnone, Bianca Maria, et al.
Publicado: (2023)

Novel and recurrent ATP2A2 mutations in Japanese patients with Darier’s disease
por: Noda, Kana, et al.
Publicado: (2016)

Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria
por: Kobayashi, Tomoko, et al.
Publicado: (2018)

Development of an in vivo model to study clonal lineage relationships in hematopoietic cells using Brainbow2.1/Confetti mice
por: de Roo, Jolanda JD, et al.
Publicado: (2019)

A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris
por: Shearer, Zackary, et al.
Publicado: (2023)

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

Krt14 and Krt15 differentially regulate regenerative properties and differentiation potential of airway basal cells
por: Ievlev, Vitaly, et al.
Publicado: (2023)

A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis
por: Affolter, Verena K., et al.
Publicado: (2022)

Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation
por: Takeichi, Takuya, et al.
Publicado: (2022)

Ichthyosis hystrix
por: Nayak, Surajit, et al.
Publicado: (2013)

Heredity in Ichthyosis
por: Kothari, B. M.
Publicado: (1936)

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype–phenotype correlation
por: Wertheim-Tysarowska, K., et al.
Publicado: (2015)

Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis
por: Al-Khenaizan, Sultan, et al.
Publicado: (2021)

Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy
por: Chen, Judy L., et al.
Publicado: (2015)

KRT8 and KRT19, associated with EMT, are hypomethylated and overexpressed in lung adenocarcinoma and link to unfavorable prognosis
por: Wang, Wenlong, et al.
Publicado: (2020)

Long non-coding antisense RNA KRT7-AS is activated in gastric cancers and supports cancer cell progression by increasing KRT7 expression
por: Huang, Binbin, et al.
Publicado: (2016)

Lamellar Ichthyosis with Rickets
por: Ali, Raafia, et al.
Publicado: (2013)

Ocular manifestation of Ichthyosis
por: Al-Amry, Mohammad A.
Publicado: (2016)

Cases of Ichthyosis and Hirsuties
por: Pickells, William
Publicado: (1851)

A KRT6A and a Novel KRT16 Gene Mutations in Chinese Patients with Pachyonychia Congenita
por: Gong, Li, et al.
Publicado: (2021)

Multifaceted Analyses of Epidermal Serine Protease Activity in Patients with Atopic Dermatitis
por: Nomura, Hayato, et al.
Publicado: (2020)

A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations
por: Wakiguchi, Hiroyuki, et al.
Publicado: (2016)

Epithelial Markers aSMA, Krt14, and Krt19 Unveil Elements of Murine Lacrimal Gland Morphogenesis and Maturation
por: Kuony, Alison, et al.
Publicado: (2017)

Harlequin ichthyosis: Case report
por: Salehin, Shahrbanoo, et al.
Publicado: (2013)

Case of Ichthyosis Intra-Uterina
por: Smellie, William
Publicado: (1844)

Surgical Management of Harlequin Ichthyosis
por: Margulies, Ilana G., et al.
Publicado: (2019)

Ichthyosis vulgaris: An updated review
por: Jaffar, Huda, et al.
Publicado: (2022)

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

Cannot write session to /tmp/vufind_sessions/sess_i8aova3me5368us88tts8af29r