Varaico: Literature-Extracted Genetic Variants

Gene:CAV1
Variant:p.P132L
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CAV1

NM_001753.5:p.P132L

Associated Papers

Caveolin and NOS in the Development of Muscular Dystrophy.

Nakashima M et al.

International Journal of Molecular Sciences, 2024

Early proteostasis of caveolins synchronizes trafficking, degradation, and oligomerization to prevent toxic aggregation.

Morales-Paytuví F et al.

The Journal of Cell Biology, 2023

Structural analysis of the P132L disease mutation in caveolin-1 reveals its role in the assembly of oligomeric complexes.

Han B et al.

The Journal of Biological Chemistry, 2023

Functional Properties of Two Distinct PTH1R Mutants Associated With Either Skeletal Defects or Pseudohypoparathyroidism.

Portales-Castillo I et al.

Jbmr Plus, 2022

Molecular architecture of the human caveolin-1 complex.

Porta JC et al.

Science Advances, 2022

Mutational drivers of cancer cell migration and invasion.

Novikov NM et al.

British Journal of Cancer, 2021

A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies.

Pradhan BS et al.

International Journal of Molecular Sciences, 2020

Expression of a Human Caveolin-1 Mutation in Mice Drives Inflammatory and Metabolic Defect-Associated Pulmonary Arterial Hypertension.

Rathinasabapathy A et al.

Frontiers in Medicine, 2020

A disease-associated frameshift mutation in caveolin-1 disrupts caveolae formation and function through introduction of a de novo ER retention signal.

Copeland CA et al.

Molecular Biology of the Cell, 2017

Functional polymorphisms of caveolin-1 variants as potential biomarkers of esophageal squamous cell carcinoma.

Wang S et al.

Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2014

Genetic variations of CAV1 gene contribute to HCC risk: a case-control study.

Zhao X et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2014

Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I.

Choi HJ et al.

Annals of Clinical and Laboratory Science, 2014

Lowered expression levels of a tumor suppressor gene - caveolin-1 within dysregulated gene networks of Fanconi anemia.

Shyamsunder P et al.

Gene, 2013

Overexpression of caveolin-1 is sufficient to phenocopy the behavior of a disease-associated mutant.

Hanson CA et al.

Traffic (copenhagen, Denmark), 2013

Probing the caveolin-1 P132L mutant: critical insights into its oligomeric behavior and structure.

Rieth MD et al.

Biochemistry, 2012

Lack of caveolin-1 (P132L) somatic mutations in breast cancer.

Ferraldeschi R et al.

Breast Cancer Research and Treatment, 2012

Non-existence of caveolin-1 gene mutations in human breast cancer.

Patani N et al.

Breast Cancer Research and Treatment, 2012

5'-CpG island promoter hypermethylation of the CAV-1 gene in breast cancer patients of Kashmir.

Syeed N et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2012

Significant association of caveolin-1 (CAV1) genotypes with breast cancer in Taiwan.

Liu LC et al.

Anticancer Research, 2011

Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations.

Ritz D et al.

Nature Cell Biology, 2011

NFBD1/MDC1 regulates Cav1 and Cav2 independently of DNA damage and p53.

Wilson KA et al.

Molecular Cancer Research : Mcr, 2011

Differential expression and function of the caveolin-1 gene in non-small cell lung carcinoma.

Chen HL et al.

Oncology Reports, 2011

Caveolin-1 P132L mutation in human cancers: 1 CAVeat to be voiced.

Lacroix-Triki M et al.

The Journal of Molecular Diagnostics : Jmd, 2010

Absence of the caveolin-1 P132L mutation in cancers of the breast and other organs.

Koike S et al.

The Journal of Molecular Diagnostics : Jmd, 2010

Clinical and translational implications of the caveolin gene family: lessons from mouse models and human genetic disorders.

Mercier I et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2009

Using Caveolin-1 epithelial immunostaining patterns to stratify human breast cancer patients and predict the Caveolin-1 (P132L) mutation.

Mercier I et al.

Cell Cycle (georgetown, Tex.), 2009

Caveolin-1 (P132L), a common breast cancer mutation, confers mammary cell invasiveness and defines a novel stem cell/metastasis-associated gene signature.

Bonuccelli G et al.

The American Journal of Pathology, 2009

Association of estrogen receptor beta with plasma-membrane caveola components: implication in control of vitamin D receptor.

Gilad LA et al.

Journal of Molecular Endocrinology, 2007

Caveolins bind to (Na+, K+)/H+ exchanger NHE7 by a novel binding module.

Lin PJ et al.

Cellular Signalling, 2007

Caveolin-1 controls BRCA1 gene expression and cellular localization in human breast cancer cells.

Glait C et al.

Febs Letters, 2006

Caveolin-1 mutations in human breast cancer: functional association with estrogen receptor alpha-positive status.

Li T et al.

The American Journal of Pathology, 2006

Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3.

Hernández-Deviez DJ et al.

Human Molecular Genetics, 2006

Cell biology of membrane trafficking in human disease.

Howell GJ et al.

International Review of Cytology, 2006

Frequent retention of heterozygosity for point mutations in p53 and Ikaros in N-ethyl-N-nitrosourea-induced mouse thymic lymphomas.

Kakinuma S et al.

Mutation Research, 2005

Caveolin-1 in breast cancer.

Bouras T et al.

Cancer Biology & Therapy, 2004

Combined loss of INK4a and caveolin-1 synergistically enhances cell proliferation and oncogene-induced tumorigenesis: role of INK4a/CAV-1 in mammary epithelial cell hyperplasia.

Williams TM et al.

The Journal of Biological Chemistry, 2004

Redefining tumour suppressor genes: exceptions to the two-hit hypothesis.

Paige AJ

Cellular and Molecular Life Sciences : Cmls, 2003

Loss of caveolin-1 gene expression accelerates the development of dysplastic mammary lesions in tumor-prone transgenic mice.

Williams TM et al.

Molecular Biology of the Cell, 2003

Caveolin-1 mutations (P132L and null) and the pathogenesis of breast cancer: caveolin-1 (P132L) behaves in a dominant-negative manner and caveolin-1 (-/-) null mice show mammary epithelial cell hyperplasia.

Lee H et al.

The American Journal of Pathology, 2002

Invasion activating caveolin-1 mutation in human scirrhous breast cancers.

Hayashi K et al.

Cancer Research, 2001

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