National Cancer Institute®
Last Modified: March 1, 2002
UI - 11807867
AU - Cohen A; Mulas R; Seri M; Gaiero A; Fichera G; Marini M; Baffico M;
TI - Camera G Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes.
SO - Am J Med Genet 2002 Jan 1;107(1):48-51
AD - Department of Pediatrics, Saint-Paul Hospital, Savona, Italy. email@example.com
We report on an Italian boy with the Meier-Gorlin syndrome (ear-patella-short stature syndrome). This rare autosomal recessive disorder comprises the triad of microtia, absent patellae, and growth retardation with prenatal onset. The patient had also an acute torsion of his left spermatic cord, a condition related to a congenital defect of the tunica vaginalis. Because this syndrome had been suggested as the human equivalent of the short ear mouse [Lacombe et al., 1994: Ann. Genet. 37:184-191], a mutation analysis of the BMP5 gene was performed and found normal. The LMX1B and the SHOX genes were also evaluated considering the absent patellae and short stature, respectively, and were found normal as well. Copyright 2001 Wiley-Liss, Inc.
UI - 11737984
AU - Sandor GK; Carmichael RP; Coraza L; Clokie CM; Jordan RC
TI - Genetic mutations in certain head and neck conditions of interest to the dentist.
SO - J Can Dent Assoc 2001 Nov;67(10):594
AD - Faculty of Dentistry, University of Toronto, Toronto, Ontario, Canada. firstname.lastname@example.org
This article identifies certain syndromes of the head and neck, which a dentist may see in clinical practice, and relates these syndromes to their sites of mutation on involved genes. This paper is timely with the near completion of the Human Genome Project, the mapping of the entire human genetic material. Knowing the site of the genetic lesion is important in helping clinicians understand the genetic basis for these conditions, and may help in our future understanding of remedies and treatments.
UI - 11693563
AU - Giardina C; Caniglia DM; Lettini T; Valente T; Poliseno G; Tantimonaco
TI - L; Favia G Morphometric discrimination between syndromic (Gorlin) and nonsyndromic keratocysts.
SO - Anal Quant Cytol Histol 2001 Oct;23(5):373-80
AD - Department of Pathological Anatomy and Genetics, University of Bari, Italy.
OBJECTIVE: To search for morphologic nuclear features in the epithelial lining of odontogenic keratocysts to differentiate simple from Gorlin syndrome cysts. STUDY DESIGN: Five cases of syndrome-associated keratocysts and five of simple ones were studied. Thirty nuclei from the epithelial basal layer for each case were analyzed by the shape analytical morphometry (SAM) software system to quantitatively evaluate nuclear dimensions (area, perimeter, diameter), contour irregularities and nuclear shape asymmetries. Results were subjected to Student's t test and cluster analysis. RESULTS: Values of nuclear dimensions were very close in both groups of keratocysts, without any significant statistical differences. The variables related to nuclear profile irregularities, as well as those describing nuclear asymmetry, showed significantly higher values (P < .001) in syndromic cysts. Cluster analysis produced two different clusters by using variables related to nuclear contour irregularities. CONCLUSION: Preliminary results indicate the existence of nuclear morphologic differences between simple and syndromic cysts.
UI - 11718263
AU - Corcoran RB; Scott MP
TI - A mouse model for medulloblastoma and basal cell nevus syndrome.
SO - J Neurooncol 2001 Jul;53(3):307-18
AD - Department of Developmental Biology, Howard Hughes Medical Institute, Beckman Center, Stanford University School of Medicine, CA, USA.
Medulloblastoma (MB), a tumor of the cerebellum, is the most frequent type of malignant childhood brain tumor. Multiple genes are causally involved in medulloblastoma including PATCHED1 (PTCH). The Patchedl (Ptc1) protein is a receptor for Sonic hedgehog (Shh), a secreted protein ligand. Shh is involved in many signaling processes that control cell fate and growth, among which is its emission from Purkinje cells in the developing cerebellum. Purkinje cell-derived Shh stimulates mitosis of the granule cell precursors that may be the cell type of origin in medulloblastoma. Ptc1 limits the effects of the Shh signal, so mutations in PTCH may lead to persistent granule cell precursors susceptible to further genetic or environmental events that cause medulloblastoma. Mice heterozygous for patched (ptc1) mutations, like heterozygous PTCH humans, have a high rate of medulloblastoma as well as other tumors. We discuss features of the mouse model and how it is contributing to understanding the process of brain tumorigenesis.
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