Literature DB >> 33846763

A Novel Case of Gorlin Syndrome Mosaicism Involving an SMO Gene Mutation: Clinical, Histological and Molecular Analysis of Basaloid Tumours.

Meriem Ighilahriz1, Sergey Nikolaev, Andrey A Yurchenko, Maxime Battistella, Samia Mourah, Fanélie Jouenne, Emanuelle Bourrat, Nicole Basset-Seguin.   

Abstract

Entities:  

Keywords:  SMO gene; mosaicism; Gorlin

Mesh：

Substances：

Year:  2021        PMID： 33846763      PMCID： PMC9364259          DOI： 10.2340/00015555-3797

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   3.875


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  14 in total

1.  STAR: ultrafast universal RNA-seq aligner.

Authors:  Alexander Dobin; Carrie A Davis; Felix Schlesinger; Jorg Drenkow; Chris Zaleski; Sonali Jha; Philippe Batut; Mark Chaisson; Thomas R Gingeras
Journal:  Bioinformatics       Date:  2012-10-25       Impact factor: 6.937

2.  Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas.

Authors:  J Reifenberger; M Wolter; C B Knobbe; B Köhler; A Schönicke; C Scharwächter; K Kumar; B Blaschke; T Ruzicka; G Reifenberger
Journal:  Br J Dermatol       Date:  2005-01       Impact factor: 9.302

3.  Genetic landscape of adult Langerhans cell histiocytosis with lung involvement.

Authors:  Fanélie Jouenne; Sylvie Chevret; Emmanuelle Bugnet; Emmanuelle Clappier; Gwenaël Lorillon; Véronique Meignin; Aurélie Sadoux; Shannon Cohen; Alain Haziot; Alexandre How-Kit; Caroline Kannengiesser; Céleste Lebbé; Dominique Gossot; Samia Mourah; Abdellatif Tazi
Journal:  Eur Respir J       Date:  2020-02-27       Impact factor: 16.671

4.  Hotspot mutations in polyomavirus positive and negative Merkel cell carcinomas.

Authors:  Tuukka Veija; Virinder Kaur Sarhadi; Virve Koljonen; Tom Bohling; Sakari Knuutila
Journal:  Cancer Genet       Date:  2015-12-04

5.  The magnitude of hedgehog signaling activity defines skin tumor phenotype.

Authors:  Vladimir Grachtchouk; Marina Grachtchouk; Lori Lowe; Tim Johnson; Lebing Wei; Aiqin Wang; Fred de Sauvage; Andrzej A Dlugosz
Journal:  EMBO J       Date:  2003-06-02       Impact factor: 11.598

6.  Postzygotic mosaicism in basal cell naevus syndrome.

Authors:  M G H C Reinders; H J Boersma; E M Leter; M Vreeburg; A D C Paulussen; A H M M Arits; G M J M Roemen; E J M Speel; P M Steijlen; M van Geel; K Mosterd
Journal:  Br J Dermatol       Date:  2017-06-06       Impact factor: 9.302

7.  Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.

Authors:  H Hahn; C Wicking; P G Zaphiropoulous; M R Gailani; S Shanley; A Chidambaram; I Vorechovsky; E Holmberg; A B Unden; S Gillies; K Negus; I Smyth; C Pressman; D J Leffell; B Gerrard; A M Goldstein; M Dean; R Toftgard; G Chenevix-Trench; B Wainwright; A E Bale
Journal:  Cell       Date:  1996-06-14       Impact factor: 41.582

8.  Segmental basal cell naevus syndrome caused by an activating mutation in smoothened.

Authors:  Z Khamaysi; R Bochner; M Indelman; L Magal; E Avitan-Hersh; O Sarig; E Sprecher; R Bergman
Journal:  Br J Dermatol       Date:  2016-06-20       Impact factor: 9.302

9.  HTSeq--a Python framework to work with high-throughput sequencing data.

Authors:  Simon Anders; Paul Theodor Pyl; Wolfgang Huber
Journal:  Bioinformatics       Date:  2014-09-25       Impact factor: 6.937

10.  Happle-Tinschert, Curry-Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum.

Authors:  M-L Lovgren; Y Zhou; G Hrčková; T Dallos; I Colmenero; S R F Twigg; C Moss
Journal:  Br J Dermatol       Date:  2019-05-23       Impact factor: 11.113
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