Results 101 to 110 of about 53,964 (227)

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

A theory for the tissue specificity of BRCA1/2 related and other hereditary cancers [PDF]

, 2010
Women who inherit a defective BRCA1 or BRCA2 gene have risks for breast and ovarian cancer that are so high and seem so selective that many mutation carriers choose to have prophylactic surgery. There has been much conjecture to explain such apparently
Bernard Friedenson
core   +1 more source

Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay [PDF]

, 2017
Breast cancer risk drastically increases in individuals with a heterozygous germline BRCA1 or BRCA2 mutation, while it is estimated to equal the population risk for relatives without the familial mutation (non-carriers).
Baert, Annelot, Claes, Kathleen, De Leeneer, Kim, De Nobele, Sylvia, Depuydt, Julie, Malfait, Fransiska, Perletti, Gianpaolo, Poppe, Bruce, Van Damme, Tim, Van Maerken, Tom, Vral, Anne   +10 more
core   +1 more source

Typhoid Toxin of Salmonella enterica Induces ISG15 Responses Mediating Host Cell Survival and Counteracting Intracellular Infection

Molecular Microbiology, EarlyView.
Toxigenic Salmonella enterica exocytose the typhoid toxin during infection causing host cell DNA damage, which activates a Type‐1 Interferon‐like response characterised by interferon‐stimulated gene 15 (ISG15) expression. ISG15 was required for host cell survival during Interferon responses and suppressed intracellular growth of Salmonella. Thus, ISG15
Daniel S. Stark, Michelle King, Angela E. M. Ibler, Salma Srour, Francesca Brown, James Sheffield, Nadia Baseer, Ellen G. Vernon, Yifeng Zhang, Christopher Staples, Lilliana Radoshevich, Daniel Humphreys   +11 more
wiley   +1 more source

Therapy With Doxycycline and Hydroxychloroquine Enables Surgical Excision of Ulcerated Cutaneous Granulomas in a Patient With Ataxia Telangiectasia

Pediatric Dermatology, EarlyView.
ABSTRACT The rubella virus vaccine strain can cause granulomas in patients with inborn errors of immunity that may evolve into chronic, recalcitrant ulcers. This report details treatment of ulcerated rubella granulomas in a patient with ataxia telangiectasia with doxycycline and hydroxychloroquine resulting in partial ulcer healing within 4 weeks ...
Luis Murguía‐Favela, Sofia Maruschak‐Love, Robertson A. Harrop, Marie‐Anne Brundler, Kyle Kurek, Kevin Fonseca, Michele L. Ramien   +6 more
wiley   +1 more source

Síndrome de Ataxia-Telangiectasia Ataxia-telangiectasia: a case report

Arquivos de Neuro-Psiquiatria, 1971
A ataxia-telangiectasia, doença de Mme. Louis-Bar, é caracterizada pela associação de ataxia cerebelar progressiva, em geral com início na primeira infância, telangiectasas óculo-cutâneas, movimentos coreoatetósicos, tendência a infecções repetidas do ...
Amauri Batista da Silva, Aílton Antonio de Moraes, J. E. Gonçalves de Medeiros, F. Almir Pires, E. Zerlotti Filho   +4 more
doaj  

Frequency of the IVS10-6T→G variant in Australian multiple-case breast cancer families [PDF]

, 2004
BACKGROUND: Germline mutations in the genes BRCA1 and BRCA2 account for only a proportion of hereditary breast cancer, suggesting that additional genes contribute to hereditary breast cancer.
Geoffrey J Lindeman, Melody Hiew, Jane E Visvader, Jennifer Leary, Michael Field, Clara L Gaff, RJ McKinlay Gardner, Kevin Trainor, Glenice Cheetham, Graeme Suthers, Judy Kirk, D Ford, AC Antoniou, KK Khanna, Y Shiloh, D Cortez, M Gatei, K Savitsky, RA Gatti, M Swift, M Swift, P Athma, HM Inskip, N Janin, B Geoffroy-Perez, JH Olsen, I Vorechovsky, MG FitzGerald, J Chen, G Chenevix-Trench, H Lei, CI Szabo, A Broeks, JL Bernstein, National Health and Medical Research Council, DA Berry, OT Johannsson, JE Armes, G Chenevix-Trench, T Dörk, A Broeks, N Foray, SS Sommer   +42 more
core   +2 more sources

Pseudo‐Dystonic Gait in a Preschool Child: Foot Posturing Contralateral to a Cuboid Fracture

Movement Disorders Clinical Practice, EarlyView.
Allison J. Chirigos, Donald L. Gilbert, Barbara E. Hallinan, Jes Marchbank, Alberto J. Espay   +4 more
wiley   +1 more source

PLK4 is a potential therapeutic target in nonmelanoma skin cancers: Evidence from molecular and in vivo studies

Photochemistry and Photobiology, EarlyView.
Exposure to solar ultraviolet radiation is the main etiologic driver of nonmelanoma skin cancers (NMSCs), including basal cell (BCC) and cutaneous squamous cell carcinomas (cSCC), which are the most prevalent types of cancers in the US. In this study, we demonstrate that the serine/threonine kinase Polo‐like kinase 4 (PLK4) is overexpressed in NMSCs ...
Mary A. Ndiaye, Debra R. Garvey, Gagan Chhabra, Chandra K. Singh, Minakshi Nihal, Nihal Ahmad   +5 more
wiley   +1 more source

Role of DNA repair in class switch recombination and somatic hypermutation [PDF]

, 2011
Class switch recombination (CSR) and somatic hypermutation (SHM), occurring in the germinal center, are two important processes for B cell development.
Du, Likun
core   +1 more source