scholarly journals CYLD Cutaneous Syndrome: Familial Cylindromatosis, Brooke-Spiegler Syndrome and Multiple Familial Trichoepitherioma

10.5772/53575 ◽  
2013 ◽  
Author(s):  
Takahiro Kurimoto ◽  
Naoki Oiso ◽  
Muneharu Miyake ◽  
Akira Kaw
Keyword(s):  
Familial Cylindromatosis

Familial Cylindromatosis and Brooke-Spiegler Syndrome

2009 ◽  
Vol 35 (5) ◽  
pp. 845-852 ◽  
Author(s):  
Neil Rajan ◽  
Alison H. Trainer ◽  
John Burn ◽  
James A. A. Langtry
Keyword(s):  
Familial Cylindromatosis

scholarly journals The BRG1- and hBRM-Associated Factor BAF57 Induces Apoptosis by Stimulating Expression of the Cylindromatosis Tumor Suppressor Gene

2005 ◽  
Vol 25 (18) ◽  
pp. 7953-7965 ◽  
Author(s):  
Li Wang ◽  
Robert A. Baiocchi ◽  
Sharmistha Pal ◽  
George Mosialos ◽  
Michael Caligiuri ◽  
...  
Keyword(s):  
Cell Death ◽  
Tumor Suppressor ◽  
Growth Regulation ◽  
Suppressor Gene ◽  
Breast Carcinoma Cell Line ◽  
Chromatin Remodelers ◽  
Cycle Arrest ◽  
Induced Apoptosis ◽  
Familial Cylindromatosis ◽  
Interfering Rna

ABSTRACT Mutation of BRG1, hBRM, and their associated factors, INI1 and BAF57, in primary human tumors has suggested that inactivation of human SWI/SNF (hSWI/SNF) complexes may be involved in neoplastic transformation. BT549 is an invasive human breast carcinoma cell line that lacks expression of BAF57, a key hSWI/SNF subunit that mediates interaction with transcriptional activators and corepressors. In this study we investigated the role of BAF57 in suppressing tumorigenesis by establishing BT549 stable cell lines that expresses full-length BAF57 protein. BT549 clones expressing BAF57 demonstrated marked phenotypic changes, slow growth kinetics, and restoration of contact inhibition. Altered growth was found to be due in part to cell cycle arrest and induction of apoptosis. Furthermore, microarray analysis revealed that BAF57-mediated cell death was associated with up-regulation of proapoptotic genes including the tumor suppressor familial cylindromatosis (CYLD), which was found to be a direct target of BAF57 as determined by chromatin immunoprecipitation analysis. Increased expression of CYLD in BT549 cells induced apoptosis, while its suppression by small interfering RNA inhibited cell death in BAF57 expressing BT549 cells. These findings demonstrate the importance of BAF57 in cell growth regulation and provide a novel link between hSWI/SNF chromatin remodelers and apoptosis.

scholarly journals Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family.

1998 ◽  
Vol 35 (10) ◽  
pp. 841-845 ◽  
Author(s):  
S Verhoef ◽  
C T Schrander-Stumpel ◽  
V D Vuzevski ◽  
A Tempelaars ◽  
L A Jansen ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Large Family ◽  
Familial Cylindromatosis

scholarly journals The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene

BMC Genetics ◽  
2016 ◽  
Vol 17 (1) ◽  
Author(s):  
Katalin Farkas ◽  
Barbara Kocsis Deák ◽  
Laura Cubells Sánchez ◽  
Ana Mercedes Victoria Martínez ◽  
Juan José Vilata Corell ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Familial Cylindromatosis

Fine Needle Aspiration Cytology of Breast Cylindroma in a Woman with Familial Cylindromatosis

2004 ◽  
Vol 48 (6) ◽  
pp. 853-858 ◽  
Author(s):  
Nancy Wang ◽  
Rosemary Leeming ◽  
Fadi W. Abdul-Karim
Keyword(s):  
Fine Needle Aspiration ◽  
Fine Needle Aspiration Cytology ◽  
Needle Aspiration ◽  
Aspiration Cytology ◽  
Fine Needle ◽  
Needle Aspiration Cytology ◽  
Familial Cylindromatosis

CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes

2006 ◽  
Vol 70 (3) ◽  
pp. 246-249 ◽  
Author(s):  
AL Young ◽  
R Kellermayer ◽  
R Szigeti ◽  
A Tészás ◽  
S Azmi ◽  
...  
Keyword(s):  
Familial Cylindromatosis

Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12–q13: evidence for its role as a tumour suppressor gene

1995 ◽  
Vol 11 (4) ◽  
pp. 441-443 ◽  
Author(s):  
Patrick J. Biggs ◽  
Richard Wooster ◽  
Deborah Ford ◽  
Pam Chapman ◽  
Jonathon Mangion ◽  
...  
Keyword(s):  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Tumour Suppressor ◽  
Chromosome 16Q12 ◽  
Familial Cylindromatosis

Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene

2004 ◽  
Vol 151 (5) ◽  
pp. 1084-1086 ◽  
Author(s):  
N. Oiso ◽  
N. Mizuno ◽  
K. Fukai ◽  
K. Nakagawa ◽  
M. Ishii
Keyword(s):  
Nonsense Mutation ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Tumour Suppressor ◽  
Mild Phenotype ◽  
Familial Cylindromatosis

scholarly journals Phenotype Diversity in Familial Cylindromatosis: A Frameshift Mutation in the Tumor Suppressor Gene CYLD Underlies Different Tumors of Skin Appendages

2002 ◽  
Vol 119 (2) ◽  
pp. 527-531 ◽  
Author(s):  
Pamela Poblete Gutiérrez ◽  
Thomas Eggermann ◽  
Daniela Höller ◽  
Frank K. Jugert ◽  
Torsten Beermann ◽  
...  
Keyword(s):  
Tumor Suppressor ◽  
Tumor Suppressor Gene ◽  
Frameshift Mutation ◽  
Suppressor Gene ◽  
Skin Appendages ◽  
Phenotype Diversity ◽  
Familial Cylindromatosis
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