Results 81 to 90 of about 25,299 (246)

Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome [PDF]

, 2017
Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions.
Adamec, Anttinen, Bradford, Carré, Chinnery, Compe, Fassihi, Hensman Moss, Ito, Jeppesen, Jung, Kraemer, Lehmann, Mimaki, Moore, Oh, Rao, Rass, Rees, Schreglmann, Sethi, Sunami, Wild, Wild   +23 more
core   +2 more sources

Kindler Syndrome: A Case Report From a Developing Country

Clinical Case Reports, Volume 13, Issue 11, November 2025.
ABSTRACT Kindler syndrome can be diagnosed clinically even in the absence of genetic testing. Early recognition of the disease, combined with regular surveillance for malignancy and a multidisciplinary approach that includes attention to psychosexual health, is essential for improving patient outcomes, enhancing quality of life, and promoting social ...
Munawar Hraib, Cyrine Ali Deeb, Tala Dib, Roula Baddour   +3 more
wiley   +1 more source

Peripheral Neurolopathy in Xeroderma Pigmentosum

Pediatric Neurology Briefs, 1990
The peripheral nerve pathology in two autopsied cases of group A xeroderma pigmentosum (De Sanctis Cacchione syndrome) is reported from the Tokyo Medical and Dental University, Tokyo Metropolitan Neurological Hospital, and Tokyo Metropolitan Kita Medical
J Gordon Millichap
doaj   +1 more source

Why? What? How? Using an Intervention Mapping approach to develop a personalised intervention to improve adherence to photoprotection in patients with Xeroderma Pigmentosum

Health Psychology and Behavioral Medicine, 2020
Background: Intervention Mapping (IM) is a systematic approach for developing theory-based interventions across a variety of contexts and settings. This paper describes the development of a complex intervention designed to reduce the dose of ultraviolet ...
Jessica Walburn, Kirby Sainsbury, Lesley Foster, John Weinman, Myfanwy Morgan, Sam Norton, Martha Canfield, Paul Chadwick, Bob Sarkany, Vera Araújo-Soares   +9 more
doaj   +1 more source

TIE1 Promotes Primary Tumor Growth by Inhibiting Apoptosis and Activating the AKT‐p70S6K Signaling Pathway in Breast Cancer

Genes to Cells, Volume 30, Issue 6, November 2025.
Highly lung‐metastatic breast‐cancer cells with elevated TIE1 expression exhibit increased tumorigenicity. In primary tumors, TIE1 undergoes cleavage and promotes cancer cell survival by activating the AKT–p70S6K signaling pathway. ABSTRACT Triple‐negative breast cancer (TNBC) is the most aggressive molecular subtype among all breast cancer types.
Kazushi Azuma, Takaya Matsuyama, Shinya Watanabe, Kentaro Semba, Jun Nakayama   +4 more
wiley   +1 more source

Symptoms and Course of Xeroderma Pigmentosum

Pediatric Neurology Briefs, 2008
Sixteen Finnish patients with xeroderma pigmentosum (XP) were followed for up to 23 years, and their neurological symptoms and course determined in a study at Turku University Central Hospital, Finland; Erasmus University, Rotterdam, The Netherlands ...
J Gordon Millichap
doaj   +1 more source

Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient [PDF]

, 2017
The human XPG (ERCC5) gene encodes a large acidic protein that corrects the ultraviolet light sensitivity of cells from both xeroderma pigmentosum complementation group G and rodent ERCC group 5.
Clarkson, Stuart G., Nouspikel, Thierry
core  

Simultaneous disruption of two DNA polymerases, Polη and Polζ, in Avian DT40 cells unmasks the role of Polη in cellular response to various DNA lesions [PDF]

, 2010
Replicative DNA polymerases are frequently stalled by DNA lesions. The resulting replication blockage is released by homologous recombination (HR) and translesion DNA synthesis (TLS). TLS employs specialized TLS polymerases to bypass DNA lesions.
A Fujimori, A Mizutani, A Niimi, A Saberi, A Tissier, Akira Motegi, Alan Lehmann, AR Lehmann, AR Lehmann, BS Plosky, C Guo, C Guo, C Masutani, C Masutani, Chikahide Masutani, CW Lawrence, D Szuts, Dávid Szüts, E Sonoda, E Sonoda, E Sonoda, EC Friedberg, EC Friedberg, Eiichiro Sonoda, Fumio Hanaoka, H Arakawa, H Arakawa, H Hochegger, HL Waters, J Akagi, James E. Haber, JE Sale, JE Sale, JH Yoon, JH Yoon, JM Di Noia, Julian E. Sale, K Bebenek, K Nojima, K Takenaka, K Watanabe, Kouji Hirota, M Bienko, M Takata, M Yamazoe, MR Albertella, MS Yuasa, MT Washington, O Ziv, PL Kannouche, PP Van Sloun, R Kusumoto, R Shinkura, R Woodgate, RE Johnson, RE Johnson, RE Johnson, RS Harris, S Prakash, S Shachar, SD McCulloch, Shigenori Iwai, Shunichi Takeda, T Kawamoto, T Okada, Takuo Kawamoto, WT Wolfle, X Wu, Y Murakumo, YC Wang, YM Yamashita   +70 more
core   +6 more sources

Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age

The Application of Clinical Genetics, 2018
Marina Guinda Ribeiro,1 Gabriella Lucato Zunta,1 Jéssica Silva Santos,1 Aparecida Machado Moraes,2 Carmen Silvia Passos Lima,2 Manoela Marques Ortega1 1Department of Post Graduate Program in Health Science, São Francisco University, Bragan ...
Ribeiro MG, Zunta GL, Santos JS, Moraes AM, Lima CSP, Ortega MM   +5 more
doaj  

XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature

Nature Communications, 2020
Xeroderma Pigmentosum group C (XP-C) is a rare genetic disorder characterised by deficient DNA repair leading to skin and internal cancer, but the latter is not well understood molecularly.
Andrey A. Yurchenko, Ismael Padioleau, Bakhyt T. Matkarimov, Jean Soulier, Alain Sarasin, Sergey Nikolaev   +5 more
doaj   +1 more source