Literature DB >> 27059536

Ichthyosis as the dermatological phenotype associated with TTC7A mutations.

S Leclerc-Mercier1,2, R Lemoine3,4, A E Bigorgne3,4, F Sepulveda3,4, C Leveau3,4, A Fischer3,4,5,6, N Mahlaoui5,7, S Hadj-Rabia8,9, G de Saint Basile10,11,12.   

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Year:  2016        PMID： 27059536     DOI： 10.1111/bjd.14644

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  8 in total

1.  Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency.

Authors:  Jessica R Saunders; Anna Lehman; Stuart E Turvey; Jie Pan; Evica Rajcan-Separovic; Aleixo M Muise; Jonathan W Bush
Journal:  J Clin Immunol       Date:  2019-07-24       Impact factor: 8.317

2.  Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.

Authors:  Dylan Lawless; Anoop Mistry; Philip M Wood; Jens Stahlschmidt; Gururaj Arumugakani; Mark Hull; David Parry; Rashida Anwar; Clive Carter; Sinisa Savic
Journal:  J Clin Immunol       Date:  2017-08-14       Impact factor: 8.317

3.  Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy.

Authors:  Katelyn Dannheim; Jodie Ouahed; Michael Field; Scott Snapper; Bram P Raphael; Sarah C Glover; Phyllis R Bishop; Natalie Bhesania; Daniel Kamin; Jay Thiagarajah; Jeffrey D Goldsmith
Journal:  Am J Surg Pathol       Date:  2022-01-05       Impact factor: 6.298

4.  Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation.

Authors:  Andrea Diociaiuti; Roberta Caruso; Silvia Ricci; Rita De Vito; Luisa Strocchio; Daniele Castiglia; Giovanna Zambruno; May El Hachem
Journal:  Genes (Basel)       Date:  2022-05-04       Impact factor: 4.141

Review 5.  TTC7A: Steward of Intestinal Health.

Authors:  Sasha Jardine; Neel Dhingani; Aleixo M Muise
Journal:  Cell Mol Gastroenterol Hepatol       Date:  2018-12-13

6.  Ttc7a regulates hematopoietic stem cell functions while controlling the stress-induced response.

Authors:  Claire Leveau; Tania Gajardo; Marie-Thérèse El-Daher; Nicolas Cagnard; Alain Fischer; Geneviève de Saint Basile; Fernando E Sepulveda
Journal:  Haematologica       Date:  2019-04-19       Impact factor: 9.941

7.  Refractory pruritus responds to dupilumab in a patient with TTC7A mutation.

Authors:  Yassaman Alipour Tehrany; Louis Marois; Caroline Colmant; Valérie Marchand; Victor Kokta; Jérôme Coulombe; Danielle Marcoux; Elie Haddad; Catherine McCuaig
Journal:  JAAD Case Rep       Date:  2020-12-10

8.  The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease.

Authors:  Neel Dhingani; Conghui Guo; Jie Pan; Qi Li; Neil Warner; Sasha Jardine; Gabriella Leung; Daniel Kotlarz; Claudia Gonzaga-Jauregui; Christoph Klein; Scott B Snapper; Víctor Manuel Navas-López; Aleixo M Muise
Journal:  Sci Rep       Date:  2020-10-29       Impact factor: 4.379
  8 in total

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