Literature DB >> 25521457

A spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK).

Jocelyn Plassais1, Eric Guaguère2, Laetitia Lagoutte1, Anne-Sophie Guillory1, Caroline Dufaure de Citres3, Frédérique Degorce-Rubiales4, Maxence Delverdier5, Amaury Vaysse6, Pascale Quignon1, Céline Bleuart5, Christophe Hitte1, Alain Fautrel7, Cecile Kaerle3, Pascale Bellaud8, Emmanuel Bensignor9, Guillaume Queney3, Emmanuelle Bourrat10, Anne Thomas3, Catherine André11.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2014        PMID: 25521457     DOI: 10.1038/jid.2014.526

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


× No keyword cloud information.
  14 in total

1.  Defining the complex epithelia that comprise the canine claw with molecular markers of differentiation.

Authors:  Paul E Bowden; Hayley Henderson; John D Reilly
Journal:  Vet Dermatol       Date:  2009-10       Impact factor: 1.589

Review 2.  Intermediate filaments and tissue repair.

Authors:  Daryle DePianto; Pierre A Coulombe
Journal:  Exp Cell Res       Date:  2004-11-15       Impact factor: 3.905

3.  A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.

Authors:  Felix B Müller; Marcel Huber; Tamar Kinaciyan; Ingrid Hausser; Christina Schaffrath; Thomas Krieg; Daniel Hohl; Bernhard P Korge; Meral J Arin
Journal:  Hum Mol Genet       Date:  2006-02-27       Impact factor: 6.150

4.  Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs.

Authors:  K M Credille; K F Barnhart; J S Minor; R W Dunstan
Journal:  Br J Dermatol       Date:  2005-07       Impact factor: 9.302

5.  Keratin 16 regulates innate immunity in response to epidermal barrier breach.

Authors:  Juliane C Lessard; Sylvia Piña-Paz; Jeremy D Rotty; Robyn P Hickerson; Roger L Kaspar; Allan Balmain; Pierre A Coulombe
Journal:  Proc Natl Acad Sci U S A       Date:  2013-11-11       Impact factor: 11.205

6.  Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.

Authors:  M K Shamsher; H A Navsaria; H P Stevens; R C Ratnavel; P E Purkis; D P Kelsell; W H McLean; L J Cook; W A Griffiths; S Gschmeissner
Journal:  Hum Mol Genet       Date:  1995-10       Impact factor: 6.150

7.  A Novel non-sense Mutation in Keratin 10 Causes a Familial Case of Recessive Epidermolytic Ichthyosis.

Authors:  Jeydith A Gutierrez; Zeina C Hannoush; Luis G Vargas; Allison Momany; Carmen C Garcia; Jeffrey C Murray; Martine Dunnwald
Journal:  Mol Genet Genomic Med       Date:  2013-07-01       Impact factor: 2.183

8.  PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.

Authors:  Anaïs Grall; Eric Guaguère; Sandrine Planchais; Susanne Grond; Emmanuelle Bourrat; Ingrid Hausser; Christophe Hitte; Matthieu Le Gallo; Céline Derbois; Gwang-Jin Kim; Laëtitia Lagoutte; Frédérique Degorce-Rubiales; Franz P W Radner; Anne Thomas; Sébastien Küry; Emmanuel Bensignor; Jacques Fontaine; Didier Pin; Robert Zimmermann; Rudolf Zechner; Mark Lathrop; Francis Galibert; Catherine André; Judith Fischer
Journal:  Nat Genet       Date:  2012-01-15       Impact factor: 38.330

9.  Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.

Authors:  Juliane C Lessard; Pierre A Coulombe
Journal:  J Invest Dermatol       Date:  2012-02-16       Impact factor: 8.551

10.  Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis.

Authors:  Dun Jack Fu; Calum Thomson; Declan P Lunny; Patricia J Dopping-Hepenstal; John A McGrath; Frances J D Smith; W H Irwin McLean; Deena M Leslie Pedrioli
Journal:  J Invest Dermatol       Date:  2013-08-20       Impact factor: 8.551

View more
  5 in total

1.  Analysis of large versus small dogs reveals three genes on the canine X chromosome associated with body weight, muscling and back fat thickness.

Authors:  Jocelyn Plassais; Maud Rimbault; Falina J Williams; Brian W Davis; Jeffrey J Schoenebeck; Elaine A Ostrander
Journal:  PLoS Genet       Date:  2017-03-03       Impact factor: 5.917

2.  A DSG1 Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis.

Authors:  Katherine A Backel; Sarah Kiener; Vidhya Jagannathan; Margret L Casal; Tosso Leeb; Elizabeth A Mauldin
Journal:  Genes (Basel)       Date:  2020-04-24       Impact factor: 4.096

Review 3.  Horizons in Veterinary Precision Oncology: Fundamentals of Cancer Genomics and Applications of Liquid Biopsy for the Detection, Characterization, and Management of Cancer in Dogs.

Authors:  Jason Chibuk; Andi Flory; Kristina M Kruglyak; Nicole Leibman; Alexis Nahama; Nilesh Dharajiya; Dirk van den Boom; Taylor J Jensen; Jeffrey S Friedman; M Richard Shen; Francisco Clemente-Vicario; Ilya Chorny; John A Tynan; Katherine M Lytle; Lauren E Holtvoigt; Muhammed Murtaza; Luis A Diaz; Dana W Y Tsui; Daniel S Grosu
Journal:  Front Vet Sci       Date:  2021-03-23

Review 4.  Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds.

Authors:  Pablo Jesús Marín-García; Lola Llobat
Journal:  Vet Sci       Date:  2022-08-15

5.  Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus.

Authors:  Sabrina Caporali; Biagio Didona; Mauro Paradisi; Alessandro Mauriello; Elena Campione; Mattia Falconi; Federico Iacovelli; Marilena Minieri; Massimo Pieri; Sergio Bernardini; Alessandro Terrinoni
Journal:  Int J Mol Sci       Date:  2021-06-27       Impact factor: 5.923

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.