Literature DB >> 27494380

Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis.

Peter Kirchmeier1, Andreas Zimmer, Bakar Bouadjar, Bernd Rösler, Judith Fischer.   

Abstract

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Year:  2017        PMID： 27494380     DOI： 10.2340/00015555-2510

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   4.437


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  10 in total

1.  Ichthyosis molecular fingerprinting shows profound TH17 skewing and a unique barrier genomic signature.

Authors:  Kunal Malik; Helen He; Thy Nhat Huynh; Gary Tran; Kelly Mueller; Kristina Doytcheva; Yael Renert-Yuval; Tali Czarnowicki; Shai Magidi; Margaret Chou; Yeriel D Estrada; Huei-Chi Wen; Xiangyu Peng; Hui Xu; Xiuzhong Zheng; James G Krueger; Amy S Paller; Emma Guttman-Yassky
Journal:  J Allergy Clin Immunol       Date:  2018-05-24       Impact factor: 10.793

2.  "Structural imprinting" of the cutaneous immune effector function.

Authors:  Yosuke Ishitsuka; Dennis R Roop; Tatsuya Ogawa
Journal:  Tissue Barriers       Date:  2020-12-03

3.  Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance.

Authors:  Farooq Ahmad; Ishtiaq Ahmed; Qamre Alam; Tanveer Ahmad; Ammara Khan; Ijaz Ahmad; Muhammad Bilal; Amir Hayat; Amjad Khan; Ahmed Waqas; Misbahuddin M Rafeeq; Ziaullah M Sain; Muhammad Umair
Journal:  Mol Syndromol       Date:  2021-08-24

4.  Computational insights into missense mutations in HTT gene causing Huntington's disease and its interactome networks.

Authors:  Muneeza Qayyum Khan; Hira Mubeen; Zohaira Qayyum Khan; Ammara Masood; Asma Zafar; Javed Iqbal Wattoo; Alim Un Nisa
Journal:  Ir J Med Sci       Date:  2022-07-13       Impact factor: 2.089

Review 5.  Loricrin at the Boundary between Inside and Outside.

Authors:  Yosuke Ishitsuka; Dennis R Roop
Journal:  Biomolecules       Date:  2022-05-06

Review 6.  Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.

Authors:  Anders Vahlquist; Judith Fischer; Hans Törmä
Journal:  Am J Clin Dermatol       Date:  2018-02       Impact factor: 7.403

7.  A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

Authors:  Martha Montalván-Suárez; Uxia Saraiva Esperón-Moldes; Laura Rodríguez-Pazos; Andrés Ordóñez-Ugalde; Fernanda Moscoso; Nora Ugalde-Noritz; Luis Santomé; Laura Fachal; Daniel Tettamanti-Miranda; Juan Carlos Ruiz; Manuel Ginarte; Ana Vega
Journal:  Mol Genet Genomic Med       Date:  2019-03-27       Impact factor: 2.183

Review 8.  The evolution of regulated cell death pathways in animals and their evasion by pathogens.

Authors:  Bart Tummers; Douglas R Green
Journal:  Physiol Rev       Date:  2022-01-01       Impact factor: 37.312

Review 9.  Update on canine filaggrin: a review.

Authors:  Daniel Combarros; Marie-Christine Cadiergues; Michel Simon
Journal:  Vet Q       Date:  2020-12       Impact factor: 3.320

10.  Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.

Authors:  Uxia Esperón-Moldes; Manuel Ginarte-Val; Laura Rodríguez-Pazos; Laura Fachal; Ana Martín-Santiago; Asunción Vicente; David Jiménez-Gallo; Encarna Guillén-Navarro; Loreto Martorell Sampol; María Antonia González-Enseñat; Ana Vega
Journal:  PLoS One       Date:  2020-02-18       Impact factor: 3.240
  10 in total

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