Results 51 to 60 of about 22,799 (245)

Xeroderma pigmentosum complicated by keratoacanthoma in a Kashmiri girl

Pigment International, 2018
Xeroderma pigmentosum is a rare autosomal recessive genetic disorder characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation.
Yasmeen J Bhat, Peerzada Sajad, Najmu Saqib, Iffat Hassan, Roohi Wani   +4 more
doaj   +1 more source

Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology [PDF]

, 2013
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder haracterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected by neurological alterations. XP
Bermúdez, Olga, Fonseca-Mendoza, Dora Janeth, Ine´s Vergara, Jéssica, Laissue, Paul, Medina, Claudia Liliana, Mosquera, Hernando, Ortega-Recalde, Oscar-Javier, Pallares, Argemiro Enrique, Restrepo, Carlos Martín, Ríos, Xiomara, Vargas, Clara   +10 more
core   +2 more sources

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   +5 more sources

Founder Mutations in Xeroderma Pigmentosum [PDF]

Journal of Investigative Dermatology, 2010
In this issue, Soufir et al. report a founder mutation in the XPC DNA repair gene in 74% of families with xeroderma pigmentosum (XP) in the Maghreb region (Algeria, Morocco, and Tunisia) of northern Africa. These patients have a high frequency of skin cancer. The presence of this founder mutation provides an opportunity for genetic counseling and early
Kenneth H. Kraemer, Deborah Tamura, John J. DiGiovanna, John J. DiGiovanna   +3 more
openaire   +2 more sources

Neuronal C/EBPβ Shortens the Lifespan via Inactivating NAMPT

Advanced Science, EarlyView.
Schematic diagram illustrating the mechanism of shortened lifespan in Thy 1‐C/EBPβ transgenic mice and intervention strategies. Briefly, C/EBPβ/AEP escalation in the aging brain triggers NAMPT fragmentation and NAD+ depletion. Knockout of AEP from Thy 1‐C/EBPβ Tg/Tg mice ameliorates cognitive impairments and elongates the lifespan.
Bowei Li, Zhongyun Xie, Mengmeng Wang, Shuke Nie, Zhengjiang Qian, Xin Meng, Xia Liu, Seong Su Kang, Keqiang Ye   +8 more
wiley   +1 more source

A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu, Kierstin Keller, Dong Li, Hope Thomas, Nora O'Connor, Abbas F. Jawad, Allison Thomas, Nina H. Thomas, Hakon Hakonarson, Leslie Castelo‐Soccio, Sarah E. Sheppard   +10 more
wiley   +1 more source

Progress in Biomimetic Microdevices for Anticancer Drug Screening and their Potential for Enhancing In Vivo Efficacy

Advanced NanoBiomed Research, EarlyView.
Biomimetic microdevices are redefining anticancer drug screening by mimicking complex tumor microenvironments. This review highlights advances in microfluidic systems, cell microarrays, and in vivo‐like models, offering new insights into drug efficacy prediction and personalized medicine. The development of effective anticancer drugs remains a critical
Ching‐Te Kuo, Yen‐Tzu Liao, Hsinyu Lee   +2 more
wiley   +1 more source

Impaired Translesion Synthesis in Xeroderma Pigmentosum Variant Extracts [PDF]

, 1999
Xeroderma pigmentosum variant (XPV) cells are characterized by a cellular defect in the ability to synthesize intact daughter DNA strands on damaged templates.
Cordonnier, Agnes M, Fuchs, Robert P P, Lehmann, Alan R   +2 more
core   +3 more sources

Comprehensive genetic and epigenetic characterization of Lynch‐like syndrome patients

International Journal of Cancer, EarlyView.
What's New? Lynch‐like syndrome is associated with development of colorectal cancer (CRC) with microsatellite instability and loss of expression of certain mismatch repair (MMR) genes, similar to Lynch syndrome, but unlike Lynch syndrome, the genetic cause of Lynch‐like syndrome (LLS) remains unknown.
Francesca Pirini, Luciano Calzari, Gianluca Tedaldi, Michela Tebaldi, Valentina Zampiga, Ilaria Cangini, Rita Danesi, Mila Ravegnani, Valentina Arcangeli, Alessandro Passardi, Elisabetta Petracci, Sara Bravaccini, Giorgia Marisi, Alessandra Viel, Daniela Barana, Monica Pedroni, Luca Roncucci, Daniele Calistri, Davide Gentilini   +18 more
wiley   +1 more source

Ultraviolet Radiation-Induced Impairment of Tumor Rejection Is Enhanced in Xeroderma Pigmentosum A Gene-Deficient Mice [PDF]

, 2005
Xeroderma pigmentosum (XP)A gene-deficient mice display dermatologic abnormalities similar to human XP, such as enhanced ultraviolet (UV)-induced acute inflammation and high incidence of UVB-induced skin cancer.
Horio, Takeshi, Miyauchi-Hashimoto, Hiroko, Sugihara, Akira, Tanaka, Kiyoji   +3 more
core   +1 more source