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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

Adding details to the attentional template offsets search difficulty: evidence from contralateral delay activity - Schmidt J, Zelinsky GJ.
We investigated how expected search difficultly affects the attentional template by having participants search for a teddy bear target among either other teddy bears (difficult search, high target-distractor similarity) or random nonbear objects (easy sear...
Source: SafetyLit - March 2, 2017 Category: Global & Universal Tags: Distraction, Fatigue, Chronobiology, Vigilance, Workload Source Type: news

COVID-19 convalescent plasma: interim recommendations from the AABB.
CONCLUSIONS: These interim recommendations are based on the best-available evidence at the time of writing. Additional data from on-going RCTs will lead to clinical practice guidelines in the future. PMID: 33586160 [PubMed - as supplied by publisher]
Source: Transfusion - February 14, 2021 Category: Hematology Authors: Cohn CS, Estcourt L, Grossman BJ, Pagano MB, Allen ES, Bloch EM, Casadevall A, Devine DV, Dunbar NM, Foroutan F, Gniadek TJ, Goel R, Gorlin J, Joyner MJ, Metcalf RA, Raval JS, Rice TW, Shaz BH, Vassallo RR, Winters JL, Beaudoin G, Tobian AAR Tags: Transfusion Source Type: research

Gorlin syndrome (nevoid basal cell carcinoma syndrome) ‐ an update and literature review
Abstract Gorlin syndrome, also called nevoid basal cell carcinoma syndrome, is an autosomal dominant neurocutaneous disease, characterized by developmental anomalies such as palmar pits and rib anomaly, and tumorigenesis such as medulloblastoma and basal cell carcinoma. This syndrome is mainly caused by a mutation of PTCH1, a human homologue of Drosophila patched, including frameshift, missense, or nonsense mutations. Genotype‐phenotype correlation has not been established. PTCH1 is a member of hedgehog signaling, which is a highly conserved pathway in vertebrates, composed of hedgehog, SMO, and GLI proteins as well as P...
Source: Pediatrics International - August 4, 2014 Category: Pediatrics Authors: Katsunori Fujii, Toshiyuki Miyashita Tags: Review Article Source Type: research

Gorlin syndrome (nevoid basal cell carcinoma syndrome): Update and literature review
Abstract Gorlin syndrome, also called nevoid basal cell carcinoma syndrome, is an autosomal dominant neurocutaneous disease characterized by developmental anomalies such as palmar pits and rib anomaly, and tumorigenesis such as medulloblastoma and basal cell carcinoma. This syndrome is mainly caused by a mutation of PTCH1, a human homologue of Drosophila patched, including frameshift, missense, or nonsense mutations. Genotype–phenotype correlation has not been established. PTCH1 is a member of hedgehog signaling, which is a highly conserved pathway in vertebrates, composed of hedgehog, SMO, and GLI proteins as well as PT...
Source: Pediatrics International - October 22, 2014 Category: Pediatrics Authors: Katsunori Fujii, Toshiyuki Miyashita Tags: Review Article Source Type: research

Histologic and Immunohistochemical Characteristics of Cutaneous Cysts in Goltz–Gorlin Syndrome: Clues for Differentiation of Nonsyndromic Cysts
Abstract:Goltz–Gorlin syndrome presents with multiple basal cell carcinomas, odontogenic keratocysts, and cutaneous cysts, among other manifestations. The cutaneous cysts have been described as both epidermoid cysts and keratocysts but were not further characterized. Light microscopic examinations were made on 23 cutaneous cysts in 4 patients associated with Goltz–Gorlin syndrome located on extremities, face, trunk, palms, and soles and compared with nonsyndromic vellus hair cysts, steatocystomas, and hybrid cysts. Twenty-one of the syndromic cysts revealed alternating infundibular-like and steatocystoma-like squamous ...
Source: The American Journal of Dermatopathology - October 28, 2014 Category: Pathology Tags: Original Study Source Type: research

Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome.
Abstract Gorlin syndrome and rhabdoid tumor predisposition syndrome (RTPS) are autosomal dominant syndromes associated with an increased risk of childhood-onset brain tumors. Individuals with Gorlin syndrome can manifest a wide range of phenotypic abnormalities, with about 5% of family members developing medulloblastoma, usually occurring in the first 3 years of life. Gorlin syndrome is associated with germline mutations in components of the Sonic Hedgehog pathway, including Patched1 (PTCH1) and Suppressor of fused (SUFU)SUFU mutation carriers appear to have an especially high risk of early-onset medulloblastoma. ...
Source: Clinical Cancer Research - June 15, 2017 Category: Cancer & Oncology Authors: Foulkes WD, Kamihara J, Evans DGR, Brugières L, Bourdeaut F, Molenaar JJ, Walsh MF, Brodeur GM, Diller L Tags: Clin Cancer Res Source Type: research

Basal cell nevus syndrome (Gorlin syndrome): genetic insights, diagnostic challenges, and unmet milestones
Publication date: June 2018Source: Pathophysiology, Volume 25, Issue 2Author(s): Maryam Akbari, Harold Chen, Grace Guo, Zachary Legan, Ghali GhaliAbstractIn this article, we present three clinical case reports on Basal Cell Nevus Syndrome (Gorlin Syndrome). Gorlin syndrome is an inherited medical condition with challenges that manifest in multiple body systems and complicate early diagnosis. We examine the epidemiology of the disease and benefits of genetic testing, molecular pathophysiology, and advancement in the molecular-based therapy of Basal Cell Nevus syndrome. The goal of this paper is to shed light on both unmet c...
Source: Pathophysiology - July 5, 2018 Category: Pathology Source Type: research

Development of a targeted gene panel for the diagnosis of Gorlin syndrome
In this study, a gene panel was developed to overcome the challenges in the diagnosis of Gorlin syndrome and allow diagnosis using a single test. A custom panel was generated for four genes associated with Gorlin syndrome: PTCH1, PTCH2, SMO, and SUFU. Twenty-seven samples from 12 patients with Gorlin syndrome and three asymptomatic blood relatives of the patients were examined.
Source: International Journal of Oral and Maxillofacial Surgery - April 15, 2022 Category: ENT & OMF Authors: Y. Nakamura, S. Onodera, M. Takano, A. Katakura, T. Nomura, T. Azuma Tags: Research Paper Source Type: research

Step-by-Step Multifunctionalization of Isoxazoles Based On SEAr Reactions and C –H Direct Arylations
Synthesis DOI: 10.1055/s-0036-1588784 Functionalized isoxazoles are important as pharmaceuticals and agrochemicals. Generally, electrophilic aromatic substitution or generation of carbanions/electrophilic trapping approach is used to introduce functional groups into unsubstituted heteroaromatics. However, these approaches have not been simple to apply to unsubstituted isoxazoles due to their poor nucleophilicity and instability under basic conditions. Recently several approaches have been reported to overcome these problems. This review summarizes the functionalization of isoxazoles, including SEAr reactions and C–H dire...
Source: Synthesis - April 18, 2017 Category: Chemistry Authors: Fuse, Shinichiro Morita, Taiki Nakamura, Hiroyuki Tags: short review Source Type: research

Intramolecular SEAr of phosphorus derivatives: computational approach to the synthesis of π-extended heterocycles.
Abstract The reaction mechanism associated with the synthesis of phosphorus-based heteropolyaromatic architectures by intramolecular SEAr have been investigated by DFT calculations at the B3LYP-D3/6-311+G(D) level of theory. The purpose of this study is to provide essential information for the future development of improved polycyclic organophosphorus materials. To that end, we have studied the impact of the initial reactant and/or the intermediates' structure into the mechanistic features and energetic profiles of the phosphorus cyclization process. Moreover, we have analysed in detail the reactivity parameters w...
Source: Chemistry - September 18, 2017 Category: Chemistry Authors: Larrañaga O, Romero-Nieto C, de Cozar Ruano A Tags: Chemistry Source Type: research

Subconjunctival Epidermoid Cysts in Gorlin-Goltz Syndrome.
Abstract Abstract Epidermoid cysts are common benign cysts which occur particularly on the skin of the face, neck and upper trunk. Subconjunctival location of these cysts is very rare and, until today, only seen in patients with Gorlin-Goltz syndrome. Histopathological examination of these cysts show similarities with odontogenic keratocysts, a typical clinical manifestation of Gorlin-Goltz syndrome. PMID: 24785977 [PubMed - as supplied by publisher]
Source: Orbit - April 30, 2014 Category: Opthalmology Authors: De Craene S, Batteauw A, Van Lint M, Claerhout I, Decock C Tags: Orbit Source Type: research

Intronic splicing mutations in PTCH1 cause Gorlin syndrome
Abstract Gorlin syndrome is an autosomal dominant disorder characterized by multiple early-onset basal cell carcinoma, odontogenic keratocysts and skeletal abnormalities. It is caused by heterozygous mutations in the tumour suppressor PTCH1. Routine clinical genetic testing, by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to confirm a clinical diagnosis of Gorlin syndrome, identifies a mutation in 60–90 % of cases. We undertook RNA analysis on lymphocytes from ten individuals diagnosed with Gorlin syndrome, but without known PTCH1 mutations by exonic sequencing or MLPA. Two al...
Source: Familial Cancer - September 1, 2014 Category: Cancer & Oncology Source Type: research

Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier–Gorlin syndrome 3
We report on the identification of a homozygous deleterious mutation in the ORC6 gene in previously described fetuses at the severe end of the Meier–Gorlin spectrum. The phenotype included severe intrauterine growth retardation, dislocation of knees, gracile bones, clubfeet, and small mandible and chest. To date, the clinical presentation of ORC6‐associated Meier–Gorlin syndrome has been mild compared to other the phenotype associated with other loci. The present report expands the clinical phenotype associated with ORC6 mutations to include severely abnormal embryological development suggesting a possible genotype...
Source: American Journal of Medical Genetics Part A - February 18, 2015 Category: Genetics & Stem Cells Authors: Stavit Allon Shalev, Morad Khayat, Daniel‐Spiegl Etty, Orly Elpeleg Tags: Clinical Report Source Type: research