| Entity | Williams-Beuren syndrom |
| Disease | Williams-Beuren syndrom (WBS) includes supravalvular aortic stenosis (SVAS), multiple peripheral pulmonary arterial stenoses, elfin face, mental and statural deficiency, characteristic dental malformation, and infantile hypercalcemia. It is associated with an autosomal dominant contiguous gene deletion involving genes from chromosome band 7q11.23, including CLDN4, elastin and LIM-kinase1. Haploinsufficiency for CLDN4 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the context of this disease. |
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| Entity | Gastric cancer |
| Oncogenesis | Downregulated in gastric cancer. Absence of CLDN4 may play a role in the disruption of cell-to-cell adhesion in diffuse type gastric cancer and in a loss of differentiation. |
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| Entity | pancreatic cancer |
| Disease | . |
| Oncogenesis | Overexpressed in pancreatic cancer. Overexpression is predominantly observed in well-differentiated tumors with decreased metastatic potential |
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| Entity | Breast cancer |
| Oncogenesis | Overexpressed in breast cancer and Paget's disease. Significance unclear. |
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| Entity | Ovarian cancer |
| Oncogenesis | CLDN4 is upregulated in ovarian tumors and cell lines and may represent a novel marker for this disease. |
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| Entity | Squamous cell carcinoma and Bowen's disease |
| Oncogenesis | Expression of claudin-4 is associated with keratinization in SCC and BD. |
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| Entity | Prostate cancer |
| Oncogenesis | Overexpressed in prostate cancer ephitelium. Significance unclear |
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| Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion. |
| Paperna T, Peoples R, Wang YK, Kaplan P, Francke U |
| Genomics. 1998 ; 54 (3) : 453-459. |
| PMID 9878248 |
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| Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands. |
| Morita K, Furuse M, Fujimoto K, Tsukita S |
| Proceedings of the National Academy of Sciences of the United States of America. 1999 ; 96 (2) : 511-516. |
| PMID 9892664 |
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| Expression of Clostridium perfringens enterotoxin receptors claudin-3 and claudin-4 in prostate cancer epithelium. |
| Long H, Crean CD, Lee WH, Cummings OW, Gabig TG |
| Cancer research. 2001 ; 61 (21) : 7878-7881. |
| PMID 11691807 |
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| Claudin-4 expression decreases invasiveness and metastatic potential of pancreatic cancer. |
| Michl P, Barth C, Buchholz M, Lerch MM, Rolke M, Holzmann KH, Menke A, Fensterer H, Giehl K, Lˆhr M, Leder G, Iwamura T, Adler G, Gress TM |
| Cancer research. 2003 ; 63 (19) : 6265-6271. |
| PMID 14559813 |
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| Claudin 4 protein expression in primary and metastatic pancreatic cancer: support for use as a therapeutic target. |
| Nichols LS, Ashfaq R, Iacobuzio-Donahue CA |
| American journal of clinical pathology. 2004 ; 121 (2) : 226-230. |
| PMID 14983936 |
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| Tight junction-associated proteins (occludin, ZO-1, claudin-1, claudin-4) in squamous cell carcinoma and Bowen's disease. |
| Morita K, Tsukita S, Miyachi Y |
| The British journal of dermatology. 2004 ; 151 (2) : 328-334. |
| PMID 15327539 |
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| Claudin 4 protein expression in primary and metastatic pancreatic cancer: support for use as a therapeutic target. |
| Nichols LS, Ashfaq R, Iacobuzio-Donahue CA |
| American journal of clinical pathology. 2004 ; 121 (2) : 226-230. |
| PMID 14983936 |
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| Claudins 2, 3, 4, and 5 in Paget's disease and breast carcinoma. |
| Soini Y |
| Human pathology. 2004 ; 35 (12) : 1531-1536. |
| PMID 15619213 |
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| Loss of the tight junction protein claudin 4 correlates with histological growth-pattern and differentiation in advanced gastric adenocarcinoma. |
| Lee SK, Moon J, Park SW, Song SY, Chung JB, Kang JK |
| Oncology reports. 2005 ; 13 (2) : 193-199. |
| PMID 15643498 |
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| Claudin-1, -3 and -4 proteins and mRNA expression in benign and malignant breast lesions: a research study. |
| Tokˆ©s AM, Kulka J, Paku S, Szik A, Pˆ°ska C, Novˆ°k PK, Szilˆ°k L, Kiss A, Bˆgi K, Schaff Z |
| Breast cancer research : BCR. 2005 ; 7 (2) : R296-R305. |
| PMID 15743508 |
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