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Total 794 results found since Jan 2013.
Efficacy and Safety of Patidegib Gel 2% for Preventing Basal Cell Carcinomas on the Face of Adults With Gorlin Syndrome
Condition: Gorlin Syndrome Interventions: Drug: Patidegib Topical Gel; Drug: Vehicle Gel Sponsors: Sol-Gel Technologies, Ltd.; Premier Research Group plc Not yet recruiting
Source: ClinicalTrials.gov - September 22, 2023 Category: Research Source Type: clinical trials
A regional red cell antibody registry improves patient safety but is underutilized
Transfusion. 2023 Sep;63(9):1778-1781. doi: 10.1111/trf.17504.NO ABSTRACTPMID:37700518 | DOI:10.1111/trf.17504
Source: Transfusion - September 13, 2023 Category: Hematology Authors: Daniel S Jones Gina Folk Jack Wilson Zachary Hausner Julie Kirkegaard Alexandra Jimenez Jed B Gorlin Patricia A Shi Source Type: research
Genes, Vol. 14, Pages 1745: Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature
We describe a newborn born with wide-spaced eyes, a very broad nose, and two separate mouths. Workup revealed the absence of the corpus callosum and the presence of a brain midline lipoma, wide sutures, and a Chiari I malformation with cerebellar herniation. We conducted a systematic review of the literature and compared all the cases described as diprosopus. In 96% of these, the central nervous system is affected, with anencephaly being the most commonly associated abnormality. Other associated anomalies include cardiac malformations (86%), cleft palate (63%), diaphragmatic hernia (13%), and disorder of sex development (D...
Source: Genes - August 31, 2023 Category: Genetics & Stem Cells Authors: Viola Trevisani Eleonora Balestri Manuela Napoli Stefano Giuseppe Caraffi Maria Chiara Baroni Francesca Peluso Anna Colonna Lorenzo Iughetti Giancarlo Gargano Andrea Superti-Furga Livia Garavelli Tags: Article Source Type: research
DONSON facilitates Cdc45 and GINS chromatin association and is essential for DNA replication initiation
Nucleic Acids Res. 2023 Aug 28:gkad694. doi: 10.1093/nar/gkad694. Online ahead of print.ABSTRACTFaithful cell division is the basis for the propagation of life and DNA replication must be precisely regulated. DNA replication stress is a prominent endogenous source of genome instability that not only leads to ageing, but also neuropathology and cancer development in humans. Specifically, the issues of how vertebrate cells select and activate origins of replication are of importance as, for example, insufficient origin firing leads to genomic instability and mutations in replication initiation factors lead to the rare human ...
Source: Cell Research - August 28, 2023 Category: Cytology Authors: Georgia Kingsley Aggeliki Skagia Paolo Passaretti Cyntia Fernandez-Cuesta Alicja Reynolds-Winczura Kinga Koscielniak Agnieszka Gambus Source Type: research
Incidence and Prevalence of 73 Different Genodermatoses: A Nationwide Study in Sweden
This study provides a valuable resource for the epidemiology of genodermatoses by reporting on the incidence and prevalence of 73 different genodermatoses.PMID:37615526 | DOI:10.2340/actadv.v103.12404
Source: Acta Dermato-Venereologica - August 24, 2023 Category: Dermatology Authors: Theofanis Zagoras Rahime Inci Despoina Kantere Peter Holmstr öm Jenny Brostr öm Martin Gillstedt Sam Polesie Sirkku Peltonen Source Type: research
LB1763 Combinatorial BRD9 and SMO targeting synergistically suppress UV-induced BCC tumor burden in a murine model of Gorlin syndrome (GS)
Hedgehog (Hh)-targeted drugs drive tumor regression in GS patients. The efficacy of Hh inhibitors (HHi) is limited by tumor resistance/regrowth following drug discontinuation supporting the need to search for novel druggable treatment pathways. Bromodomain-containing protein 9 (BRD9) is a component of non-canonical BAF of SWI/SNF chromatin remodeling complexes. Protein kinase B/AKT enhances cell survival and drives BCC growth. Using murine ASZ001 BCC cells and Ptch1+/-/SKH1 mice, we show persistent elevation of BRD9 and AKT activity in HHi-resistant BCC cells and in tumor allografts.
Source: Journal of Investigative Dermatology - August 21, 2023 Category: Dermatology Authors: A. Kim, Y. Zhu, D. Chen, M. Elmais, M. Athar, D.R. Bickers Source Type: research
Gorlin-Goltz Syndrome: A Case Report and Literature Review with < em > PTCH1 < /em > Gene Sequencing
Arch Plast Surg. 2023 Aug 2;50(4):384-388. doi: 10.1055/a-2096-3536. eCollection 2023 Jul.ABSTRACTGorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 ( PTCH1 ) gene variants and/or SUFU gene variants. The presence of either two main criteria or one major and two minor criteria are required for the diagnosis of Gorlin-Goltz syndrome. Recently, a major criterion for molecular confirmation has also been proposed. In this article, we report the case of an 80-year-old male ...
Source: Archives of Plastic Surgery - August 11, 2023 Category: Cosmetic Surgery Authors: Hyo Seong Kim Seung Heo Kyung Sik Kim Joon Choi Jeong Yeol Yang Source Type: research
