scholarly journals Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor

2018 ◽  
Vol 30 (5) ◽  
pp. 597
Author(s):  
Shih-Wen Hsu ◽  
Chien-yio Lin ◽  
Chuang-Wei Wang ◽  
Wen-Hung Chung ◽  
Chih-Hsun Yang ◽  
...  
Keyword(s):  
Goltz Syndrome ◽  
Patched 1

scholarly journals A Novel Signaling Pathway Mediated by the Nuclear Targeting of C-Terminal Fragments of Mammalian Patched 1

PLoS ONE ◽  
2011 ◽  
Vol 6 (4) ◽  
pp. e18638 ◽  
Author(s):  
Hiroki Kagawa ◽  
Yuka Shino ◽  
Daigo Kobayashi ◽  
Syunsuke Demizu ◽  
Masumi Shimada ◽  
...  
Keyword(s):  
Signaling Pathway ◽  
Nuclear Targeting ◽  
Patched 1

scholarly journals Early diagnosis of Gorlin-Goltz syndrome: case report

2011 ◽  
Vol 7 (1) ◽  
Author(s):  
Ana R Casaroto ◽  
Daniela CN Rocha Loures ◽  
Eduardo Moreschi ◽  
Vanessa C Veltrini ◽  
Cleverson L Trento ◽  
...  
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Goltz Syndrome

scholarly journals Response to inhibition of smoothened in diverse epithelial cancer cells that lack smoothened or patched 1 mutations

2012 ◽  
Vol 41 (5) ◽  
pp. 1751-1761 ◽  
Author(s):  
FABRIZIO GALIMBERTI ◽  
ALEXANDER M. BUSCH ◽  
FADZAI CHINYENGETERE ◽  
TIAN MA ◽  
DAVID SEKULA ◽  
...  
Keyword(s):  
Cancer Cells ◽  
Epithelial Cancer ◽  
Patched 1

Extensive Facial Clefting in a Patient with Goltz Syndrome: Multidisciplinary Treatment of a Previously Unreported Association

2002 ◽  
Vol 39 (4) ◽  
pp. 469-473 ◽  
Author(s):  
Jeffrey A. Ascherman ◽  
Sean L. Knowles ◽  
Kenneth C. Troutman
Keyword(s):  
Musculoskeletal System ◽  
Multidisciplinary Approach ◽  
Multidisciplinary Treatment ◽  
Severe Form ◽  
Female Infant ◽  
Craniofacial Abnormalities ◽  
Multisystem Disorder ◽  
Facial Region ◽  
Facial Cleft ◽  
Goltz Syndrome

Objective Goltz syndrome is a rare, X-linked dominant, multisystem disorder found almost exclusively in female patients. Although the cutaneous features predominate in most reports, characteristic abnormalities are also frequently present in the musculoskeletal system and facial region. We report a female infant born with a severe form of Goltz syndrome that included an extremely wide facial cleft, an abnormality not previously reported in a patient with this disorder. Her management demonstrates the advantages of a multidisciplinary approach to effectively care for patients with severe craniofacial abnormalities.

Exceptional Bone Metastasis of Basal Cell Carcinoma in Gorlin-Goltz Syndrome

Dermatology ◽  
2010 ◽  
Vol 220 (1) ◽  
pp. 57-59 ◽  
Author(s):  
Tatiana Lamon ◽  
Stephane Gerard ◽  
Nicolas Meyer ◽  
Benjamin Losfeld ◽  
Gabor Abellan van Kan ◽  
...  
Keyword(s):  
Bone Metastasis ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Goltz Syndrome

Patched 1 is a crucial determinant of asymmetry and digit number in the vertebrate limb

Development ◽  
2009 ◽  
Vol 136 (20) ◽  
pp. 3515-3524 ◽  
Author(s):  
N. C. Butterfield ◽  
V. Metzis ◽  
E. McGlinn ◽  
S. J. Bruce ◽  
B. J. Wainwright ◽  
...  
Keyword(s):  
Digit Number ◽  
Vertebrate Limb ◽  
Patched 1
Sign in / Sign up

Export Citation Format

Share Document