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Total 4438870 results found since Jan 2013.

Finding the best-fit background function for whole-powder-pattern fitting using LASSO combined with tree search
A new linear function for modelling the background in whole-powder-pattern fitting has been derived by applying LASSO (least absolute shrinkage and selection operator) and the technique of tree search. The background function (BGF) consists of terms bnL(2 θ /180) − n/2   and bnH(1   −   2 θ /180) − n/2 for the low- and high-angle sides, respectively. Some variable parameters of the BGF should be fixed at zero while others should be varied in order to find the best fit for a given data set without inducing overfitting. The LASSO algorithm can automatically select the variables in linear regression analysis. Ho...
Source: Journal of Applied Crystallography - February 14, 2021 Category: Physics Authors: Toraya, H. Tags: background functions LASSO tree search least absolute shrinkage and selection operator whole-powder-pattern fitting X-ray powder diffraction research papers Source Type: research

What is the current best RSS reader?
After it was announced that Google Reader will be shut down in July, some of my Twitter buddies asked me what I plan to use in the future as a RSS reader. I have already switched to RSS Owl. Pros: - faster and more powerful than Google Reader - portable program that does not require installation (choose the version labeled "rssowl-2.1.6.windows.zip"). You can take it on a USB drive if you wish. - keyboard shortcuts - you can either customize the existing shortcuts or create new ones - social media sharing integration (Buffer, Twitter, Facebook, etc.) - Easy export and import of your RSS subscriptions as an OPML file - o...
Source: Clinical Cases and Images - Blog - March 24, 2013 Category: Professors and Educators Tags: RSS Source Type: blogs

Axillary basal cell carcinoma in patients with Goltz-Gorlin syndrome: report of basal cell carcinoma in both axilla of a woman with basal cell nevus syndrome and literature review.
CONCLUSIONS: Basal cell carcinoma of the axilla has only been described in 79 individuals; two of the patients were women with pigmented tumors who had basal cell nevus syndrome. Similar to other patients with axillary basal cell carcinoma, the tumors were histologically nonaggressive and did not recur following treatment. Whether PTCH1 gene mutation predisposes basal cell nevus patients to develop axillary basal cell carcinomas remains to be determined. PMID: 25148279 [PubMed - in process]
Source: Dermatol Online J - August 29, 2014 Category: Dermatology Authors: Cohen PR Tags: Dermatol Online J Source Type: research

Germline Mutations in SUFU Cause Gorlin Syndrome-Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations BIOLOGY OF NEOPLASIA
Conclusion We demonstrate convincing evidence that SUFU mutations can cause classical Gorlin syndrome. Our study redefines the risk of medulloblastoma in Gorlin syndrome, dependent on the underlying causative gene. Previous reports have found a 5% risk of medulloblastoma in Gorlin syndrome. We found a < 2% risk in PTCH1 mutation–positive individuals, with a risk up to 20x higher in SUFU mutation–positive individuals. Our data suggest childhood brain magnetic resonance imaging surveillance is justified in SUFU-related, but not PTCH1-related, Gorlin syndrome.
Source: Journal of Clinical Oncology - December 17, 2014 Category: Cancer & Oncology Authors: Smith, Beetz, Williams, Bhaskar, O'Sullivan, Anderson, Daly, Urquhart, Bholah, Oudit, Cheesman, Kelsey, McCabe, Newman, Evans Tags: Non-Melanoma Skin Cancer, Hereditary Cancers & Genetic Predisposition, CNS Tumors BIOLOGY OF NEOPLASIA Source Type: research

Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia.
We describe a case of twins with sporadic Gorlin syndrome. Both twins had common Gorlin syndrome features including calcification of the falx cerebri, multiple jaw keratocysts, and multiple basal cell carcinomas, but with different expressivity. One brother also had benign testicular mesothelioma. We propose this tumor type as a possible new feature of Gorlin syndrome. Gorlin syndrome is a rare autosomal dominant disorder characterized by both developmental abnormalities and cancer predisposition, with variable expression of various developmental abnormalities and different types of tumors. The syndrome is primarily caused...
Source: Croatian Medical Journal - February 28, 2018 Category: General Medicine Authors: Musani V, Ozretić P, Trnski D, Sabol M, Poduje S, Tošić M, Šitum M, Levanat S Tags: Croat Med J Source Type: research

Consensus recommendations for the treatment of basal cell carcinomas in Gorlin syndrome with topical methylaminolaevulinate‐photodynamic therapy
ConclusionsMAL‐PDT is safe and effective in patients with Gorlin syndrome. Utilization of these recommendations may improve efficacy and clearance rates in this population.
Source: Journal of the European Academy of Dermatology and Venereology - April 13, 2013 Category: Dermatology Authors: N. Basset‐Seguin, R. Bissonnette, C. Girard, M. Haedersdal, J.T. Lear, C. Paul, S. Piaserico Tags: Original Article Source Type: research

Hedgehog signaling is synergistically enhanced by nutritional deprivation and ligand stimulation in human fibroblasts of Gorlin syndrome.
Abstract Hedgehog signaling is a pivotal developmental pathway that comprises hedgehog, PTCH1, SMO, and GLI proteins. Mutations in PTCH1 are responsible for Gorlin syndrome, which is characterized by developmental defects and tumorigenicity. Although the hedgehog pathway has been investigated extensively in Drosophila and mice, its functional roles have not yet been determined in human cells. In order to elucidate the mechanism by which transduction of the hedgehog signal is regulated in human tissues, we employed human fibroblasts derived from three Gorlin syndrome patients and normal controls. We investigated GL...
Source: Biochemical and Biophysical Research communications - January 7, 2015 Category: Biochemistry Authors: Mizuochi H, Fujii K, Shiohama T, Uchikawa H, Shimojo N Tags: Biochem Biophys Res Commun Source Type: research

Gorlin syndrome-induced pluripotent stem cells form medulloblastoma with loss of heterozygosity in PTCH1.
In this study, we generated iPSCs derived from fibroblasts of four patients with Gorlin syndrome (Gln-iPSCs) with heterozygous mutations of the PTCH1 gene. Gln-iPSCs from the four patients developed into medulloblastoma, a manifestation of Gorlin syndrome, in 100% (four out of four), of teratomas after implantation into immunodeficient mice, but none (0/584) of the other iPSC-teratomas did so. One of the medulloblastomas showed loss of heterozygosity in the PTCH1 gene while the benign teratoma, i.e. the non-medulloblastoma portion, did not, indicating a close clinical correlation between tumorigenesis in Gorlin syndrome pa...
Source: Aging - May 20, 2020 Category: Biomedical Science Authors: Ikemoto Y, Miyashita T, Nasu M, Hatsuse H, Kajiwara K, Fujii K, Motojima T, Kokido I, Toyoda M, Umezawa A Tags: Aging (Albany NY) Source Type: research

Gorlin Syndrome and Cowden Syndrome
Keio J Med. 2023 Aug 10. doi: 10.2302/kjm.2023-0010-IR. Online ahead of print.ABSTRACTGorlin syndrome and Cowden syndrome are hereditary diseases that are characterized by multiple malignancies, cutaneous symptoms, and various other abnormalities. Both disorders are caused by a mutation of the gene that regulates cell proliferation and growth, resulting in tumorigenesis. Representative mutations are mutation in the patched 1 gene (PTCH1) in Gorlin syndrome and mutation in the phosphatase and tensin homolog deleted from chromosome 10 (PTEN) gene in Cowden syndrome. Making a diagnosis of these diseases in the early years of ...
Source: The Keio Journal of Medicine - August 9, 2023 Category: Universities & Medical Training Authors: Hiroyuki Goto Chiharu Tateishi Daisuke Tsuruta Source Type: research