Literature DB >> 30903456

A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency.

Sinem Firtina1,2, Funda Cipe3, Yuk Yin Ng4, Ayca Kiykim5, Ozden Hatirnaz Ng1,6, Tugce Sudutan1, Cigdem Aydogmus3, Safa Baris7, Gulyuz Ozturk8, Elif Aydiner7, Ahmet Ozen7, Muge Sayitoglu9.   

Abstract

Entities:  

Year:  2019        PMID： 30903456     DOI： 10.1007/s10875-019-00615-6

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


× No keyword cloud information.
  20 in total

1.  First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases.

Authors:  M Louise Markert; José G Marques; Bénédicte Neven; Blythe H Devlin; Elizabeth A McCarthy; Ivan K Chinn; Adriana S Albuquerque; Susana L Silva; Claudio Pignata; Geneviève de Saint Basile; Rui M Victorino; Capucine Picard; Marianne Debre; Nizar Mahlaoui; Alain Fischer; Ana E Sousa
Journal:  Blood       Date:  2010-10-26       Impact factor: 22.113

2.  Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.

Authors:  Prateek Kumar; Steven Henikoff; Pauline C Ng
Journal:  Nat Protoc       Date:  2009-06-25       Impact factor: 13.491

3.  MutationTaster2: mutation prediction for the deep-sequencing age.

Authors:  Jana Marie Schwarz; David N Cooper; Markus Schuelke; Dominik Seelow
Journal:  Nat Methods       Date:  2014-04       Impact factor: 28.547

4.  'Nude', a new hairless gene with pleiotropic effects in the mouse.

Authors:  S P Flanagan
Journal:  Genet Res       Date:  1966-12       Impact factor: 1.588

5.  A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey.

Authors:  Sinem Firtina; Yuk Yin Ng; Ozden Hatirnaz Ng; Serdar Nepesov; Osman Yesilbas; Meltem Kilercik; Nihan Burtecene; Suzan Cinar; Yildiz Camcioglu; Ugur Ozbek; Muge Sayitoglu
Journal:  Immunogenetics       Date:  2017-06-09       Impact factor: 2.846

Review 6.  FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches.

Authors:  Vera Gallo; Emilia Cirillo; Giuliana Giardino; Claudio Pignata
Journal:  J Clin Immunol       Date:  2017-09-21       Impact factor: 8.317

7.  New member of the winged-helix protein family disrupted in mouse and rat nude mutations.

Authors:  M Nehls; D Pfeifer; M Schorpp; H Hedrich; T Boehm
Journal:  Nature       Date:  1994-11-03       Impact factor: 49.962

Review 8.  Severe combined immunodeficiencies and related disorders.

Authors:  Alain Fischer; Luigi D Notarangelo; Bénédicte Neven; Marina Cavazzana; Jennifer M Puck
Journal:  Nat Rev Dis Primers       Date:  2015-10-29       Impact factor: 52.329

9.  A domain of Foxn1 required for crosstalk-dependent thymic epithelial cell differentiation.

Authors:  Dong-ming Su; Samuel Navarre; Won-jong Oh; Brian G Condie; Nancy R Manley
Journal:  Nat Immunol       Date:  2003-10-05       Impact factor: 25.606

10.  Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population.

Authors:  M Adriani; A Martinez-Mir; F Fusco; R Busiello; J Frank; S Telese; E Matrecano; M V Ursini; A M Christiano; C Pignata
Journal:  Ann Hum Genet       Date:  2004-05       Impact factor: 1.670
View more
  1 in total

Review 1.  T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features.

Authors:  Giuliana Giardino; Carla Borzacchiello; Martina De Luca; Roberta Romano; Rosaria Prencipe; Emilia Cirillo; Claudio Pignata
Journal:  Front Immunol       Date:  2020-08-14       Impact factor: 7.561
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.