نتایج جستجو برای: ژن tp63

تعداد نتایج: 16672  

2012
Simon S. McDade Alexandra E. Henry Geraldine P. Pivato Iwanka Kozarewa Constantinos Mitsopoulos Kerry Fenwick Ioannis Assiotis Jarle Hakas Marketa Zvelebil Nicholas Orr Christopher J. Lord Daksha Patel Alan Ashworth Dennis J. McCance

The p63 transcription factor (TP63) is critical in development, growth and differentiation of stratifying epithelia. This is highlighted by the severity of congenital abnormalities caused by TP63 mutations in humans, the dramatic phenotypes in knockout mice and de-regulation of TP63 expression in neoplasia altering the tumour suppressive roles of the TP53 family. In order to define the normal r...

Journal: :Journal of Investigative Dermatology 2022

Tumor protein 63, encoded by TP63, has an essential role in epidermal differentiation and ectodermal development. Autosomal dominant mutations human TP63 result several overlapping syndromes, with some established genotype-phenotype correlations based on the domain affected. Several groups have linked TP63-associated dysplasia (ED) syndromes varying degrees of immune dysfunction. In this study,...

2017
Xia Fang Bing Xiu Zhizhang Yang Weizhe Qiu Long Zhang Suxia Zhang Yunjin Wu Xuyou Zhu Xue Chen Suhong Xie Xianghua Yi Aibin Liang Yu Zeng

Latest study showed that a novel translocation between programmed cell death ligand 1 (PD-L1) (cluster of differentiation 274) and TP63 (tumor protein 63) can be found in diffuse large B-cell lymphoma (DLBCL), resulting in their conjunct overexpression in tumor cells at RNA level. However, the expressed pattern of these 2 genes at protein level in DLBCL remains largely unknown, and the clinical...

2017
Paola Monti Paola Ghiorzo Paola Menichini Giorgia Foggetti Paola Queirolo Alberto Izzotti Gilberto Fronza

In contrast to TP53, cancer development is rarely associated with mutations in the TP63 and TP73 genes. Recently, next generation sequencing analysis revealed that TP63 mutations are frequent, specifically in cutaneous melanomas. Cutaneous melanoma represents 4% of skin cancers but it is responsible for 80% of skin cancer related deaths. In the present study, we first determined whether all thr...

2014
Simon S. McDade Daksha Patel Michael Moran James Campbell Kerry Fenwick Iwanka Kozarewa Nicholas J. Orr Christopher J. Lord Alan A. Ashworth Dennis J. McCance

In response to genotoxic stress the TP53 tumour suppressor activates target gene expression to induce cell cycle arrest or apoptosis depending on the extent of DNA damage. These canonical activities can be repressed by TP63 in normal stratifying epithelia to maintain proliferative capacity or drive proliferation of squamous cell carcinomas, where TP63 is frequently overexpressed/amplified. Here...

2011
Valeria Serra Marco Castori Mauro Paradisi Laura Bui Gerry Melino Alessandro Terrinoni

Heterozygous mutations in TP63 cause a wide spectrum of autosomal dominant developmental disorders variably affecting skin, limbs, and face. TP63 encodes p63, a protein expressed in two main isoforms (Tap63 and ΔNp63) with critical roles in both cell differentiation and development. Some analyses suggest a relationship of the mutation site to the observed clinical picture, although this link is...

2014
Edward A Ratovitski

Tumor protein (TP)-p63 has been discovered as TP53 homolog more than fifteen years ago and has become a master regulator of skin development, proliferation and stem cell maintenance. While TP53 is known to be the most mutated gene in human cancer, TP63 mutations are mostly associated with the various types of ectodermal dysplasia. All TP53 family members, TP53, TP63 and TP73, function as transc...

Journal: :Journal of Investigative Dermatology 2022

Tumor protein 63, encoded by TP63, has an essential role in epidermal differentiation and ectodermal development. Autosomal dominant mutations human TP63 result several overlapping syndromes, with some established genotype-phenotype correlations based on the domain affected. Several groups have linked TP63-associated dysplasia (ED) syndromes varying degrees of immune dysfunction. In this study,...

2014
R N Chavan A G Bridges R A Knudson R P Ketterling N Comfere D A Wada C Torres-Cabala D J DiCaudo G Vasmatzis M R Pittelkow A L Feldman

Cutaneous T-cell lymphomas (CTCLs) comprise a heterogeneous spectrum of T-cell neoplasms with widely varying clinical presentation, biologic behavior and overall outcome. The most common CTCL is mycosis fungoides (MF), which can range from a localized, indolent process to an aggressive lymphoma with widespread cutaneous and extracutaneous involvement and large-cell transformation (MF-LCT). This...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2011
Yufei Wang Peter Broderick Athena Matakidou Jayaram Vijayakrishnan Timothy Eisen Richard S Houlston

BACKGROUND Variation at TP63 has recently been shown to be associated with lung adenocarcinoma in the Asian population. METHODS To investigate how this finding translates to the European population we compared the genotypes of SNPs annotating the TP63 locus at 3q28 in 4,462 lung cancer patients, including 911 with adenocarcinoma, and 8,235 controls from the United Kingdom. RESULTS A statist...

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