PMC Articles for MedGen (Select 870443) - PMC

Hector Garcia-Moreno, Douglas R Langbehn, Adesoji Abiona, Isabel Garrood, Zofia Fleszar, Marta Antonia Manes, Ana M Susana Morley, Emma Craythorne, Shehla Mohammed, Tanya Henshaw, Sally Turner, Harsha Naik, Istvan Bodi, Robert P E Sarkany, Hiva Fassihi, Alan R Lehmann, Paola Giunti

Brain. 2023 Dec; 146(12): 5044–5059. Published online 2023 Dec 1. doi: 10.1093/brain/awad266

PMCID:: PMC10690019

Abstract Article PDF–513K

Select item 106684134.

Erythropoietic protoporphyria: case reports for clinical and therapeutic hints

Cristina Tumminelli, Francesca Burlo, Serena Pastore, Giovanni Maria Severini, Irene Berti, Stefano Marchini, Davide Zanon, Eleonora De Martino, Alberto Tommasini

Ital J Pediatr. 2023; 49: 156. Published online 2023 Nov 23. doi: 10.1186/s13052-023-01544-2

Correction in:: Ital J Pediatr. 2024; 50: 259.

PMCID:: PMC10668413

Abstract Article PDF–1.0M

Select item 104227135.

Brazilian XP-E siblings carrying a novel DDB2 variant developed early-onset melanoma: a case report

Ana Rafaela de Souza Timoteo, Isabel Cristina Pinheiro de Almeida, Andrey A Yurchenko, Sheila Ramos de Miranda Henriques, Paulo de Souza Segundo, Fatemeh Rajabi, Sergey Nikolaev, Tirzah Braz Petta

BMC Med Genomics. 2023; 16: 186. Published online 2023 Aug 12. doi: 10.1186/s12920-023-01622-8

PMCID:: PMC10422713

Abstract Article PDF–1.6M

Select item 103189816.

Deep intronic founder mutations identified in the ERCC4/XPF gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum

Chikako Senju, Yuka Nakazawa, Taichi Oso, Mayuko Shimada, Kana Kato, Michiko Matsuse, Mariko Tsujimoto, Taro Masaki, Yasushi Miyazaki, Satoshi Fukushima, Satoshi Tateishi, Atsushi Utani, Hiroyuki Murota, Katsumi Tanaka, Norisato Mitsutake, Shinichi Moriwaki, Chikako Nishigori, Tomoo Ogi

Proc Natl Acad Sci U S A. 2023 Jul 4; 120(27): e2217423120. Published online 2023 Jun 26. doi: 10.1073/pnas.2217423120

PMCID:: PMC10318981

Abstract Article PDF–4.9M

Select item 102650427.

First genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP‐C founder mutation

Najlaa Khalat, Olfa Messaoud, Mariem Ben Rekaya, Mariem Chargui, Mohamed Zghal, Bashir Zendah, Najat Saqer, Mourad Mokni, Sonia Abdelhak, Othman A. Mohamed

Mol Genet Genomic Med. 2023 Jun; 11(6): e2158. Published online 2023 Feb 22. doi: 10.1002/mgg3.2158

PMCID:: PMC10265042

Abstract Article PDF–3.6M

Select item 100140588.

DNA repair in cardiomyocytes is critical for maintaining cardiac function in mice

Martine de Boer, Maaike te Lintel Hekkert, Jiang Chang, Bibi S. van Thiel, Leonie Martens, Maxime M. Bos, Marion G. J. de Kleijnen, Yanto Ridwan, Yanti Octavia, Elza D. van Deel, Lau A. Blonden, Renata M. C. Brandt, Sander Barnhoorn, Paula K. Bautista‐Niño, Ilona Krabbendam‐Peters, Rianne Wolswinkel, Banafsheh Arshi, Mohsen Ghanbari, Christian Kupatt, Leon J. de Windt, A. H. Jan Danser, Ingrid van der Pluijm, Carol Ann Remme, Monika Stoll, Joris Pothof, Anton J. M. Roks, Maryam Kavousi, Jeroen Essers, Jolanda van der Velden, Jan H. J. Hoeijmakers, Dirk J. Duncker

Aging Cell. 2023 Mar; 22(3): e13768. Published online 2023 Feb 8. doi: 10.1111/acel.13768

PMCID:: PMC10014058

Abstract Article PDF–24M

Select item 100140199.

Xeroderma pigmentosum: case report

Maria Eduarda Coelho Cordeiro, Luisa Corte Real, Andrea Gisele Pereira Simoni

Rev Paul Pediatr. 2023; 41: e2021390. Published online 2023 Mar 13. doi: 10.1590/1984-0462/2023/41/2021390

PMCID:: PMC10014019

Abstract Article PDF–2.2M

Select item 999541810.

Nephrotoxic effect of heavy metals and the role of DNA repair gene among secondary aluminum smelter workers

Gehan Moubarz, Atef M. F. Mohammed, Inas A. Saleh, Eman M. Shahy, Mona A. Helmy

Environ Sci Pollut Res Int. 2023; 30(11): 29814–29823. Published online 2022 Nov 23. doi: 10.1007/s11356-022-24270-4

PMCID:: PMC9995418

Abstract Article PDF–1.0M

Select item 996882411.

Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria

Amy K. Dickey, Hetanshi Naik, Siobán B. Keel, Cynthia Levy, Simon W. Beaven, Sarina B. Elmariah, Angelika L. Erwin, Robert J. Goddu, Karli Hedstrom, Rebecca K. Leaf, Mohamed Kazamel, Marshall Mazepa, Lisa Liang Philpotts, John Quigley, Haya Raef, Sean R. Rudnick, Behnam Saberi, Manish Thapar, Jonathan Ungar, Bruce Wang, Manisha Balwani

J Am Acad Dermatol. Author manuscript; available in PMC 2024 Dec 1.

Published in final edited form as: J Am Acad Dermatol. 2023 Dec; 89(6): 1227–1237. Published online 2022 Aug 27. doi: 10.1016/j.jaad.2022.08.036

PMCID:: PMC9968824

Abstract Article PDF–743K

Select item 938152912.

Inflammatory landscape in Xeroderma pigmentosum patients with cutaneous melanoma

Asma Chikhaoui, Meriem Jones, Tadeja Režen, Melika Ben Ahmed, Chokri Naouali, Radovan Komel, Mohamed Zghal, Samir Boubaker, Sonia Abdelhak, Houda Yacoub-Youssef

Sci Rep. 2022; 12: 13854. Published online 2022 Aug 16. doi: 10.1038/s41598-022-17928-z

PMCID:: PMC9381529

Abstract Article PDF–3.1M

Select item 933608313.

Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report

Ezgi Aysu Şahin, Ekim Zihni Taşkıran, Pelin Özlem Şimşek Kiper, Burça Aydın, Eda Utine

J Med Case Rep. 2022; 16: 306. Published online 2022 Jul 28. doi: 10.1186/s13256-022-03524-2

PMCID:: PMC9336083

Abstract Article PDF–1.5M

Select item 931397114.

Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated—A Systematic Review

Tito Brambullo, Michele Rosario Colonna, Vincenzo Vindigni, Stefano Piaserico, Giuseppe Masciopinto, Mariarosaria Galeano, Alfio Luca Costa, Franco Bassetto

Biomed Res Int. 2022; 2022: 8549532. Published online 2022 Jul 18. doi: 10.1155/2022/8549532

PMCID:: PMC9313971

Abstract Article PDF–1.3M

Select item 926974415.

A stable XPG protein is required for proper ribosome biogenesis: Insights on the phenotype of combinate Xeroderma Pigmentosum/Cockayne Syndrome patients

Florent TAUPELET, Lise-Marie DONNIO, Charlène MAGNANI, Pierre-Olivier MARI, Giuseppina GIGLIA-MARI

PLoS One. 2022; 17(7): e0271246. Published online 2022 Jul 8. doi: 10.1371/journal.pone.0271246

PMCID:: PMC9269744

Abstract Article PDF–1.2M

Select item 889630516.

Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts

Sergey Nikolaev, Andrey A. Yurchenko, Alain Sarasin

Orphanet J Rare Dis. 2022; 17: 104. Published online 2022 Mar 4. doi: 10.1186/s13023-022-02203-1

PMCID:: PMC8896305

Abstract Article PDF–1.0M

Select item 860756617.

Association between polymorphisms rs2228001 and rs2228000 in XPC and genetic susceptibility to preeclampsia: a case control study

Jingli Wang, Chengcheng Guan, Jing Sui, Yucui Zang, Yuwen Wu, Ru Zhang, Xiaoying Qi, Shunfu Piao

BMC Pregnancy Childbirth. 2021; 21: 787. Published online 2021 Nov 22. doi: 10.1186/s12884-021-04242-1

PMCID:: PMC8607566

Abstract Article PDF–943K

Select item 839156418.

Xeroderma Pigmentosum: Gene Variants and Splice Variants

Marie Christine Martens, Steffen Emmert, Lars Boeckmann

Genes (Basel) 2021 Aug; 12(8): 1173. Published online 2021 Jul 29. doi: 10.3390/genes12081173

PMCID:: PMC8391564

Abstract Article PDF–660K

Select item 802561119.

Parkinson‐like early autonomic dysfunction induced by vagal application of DOPAL in rats

Jie Sun, Chao He, Qiu‐Xin Yan, Hong‐Dan Wang, Ke‐Xin Li, Xun Sun, Yan Feng, Rong‐Rong Zha, Chang‐Peng Cui, Xue Xiong, Shan Gao, Xue Wang, Rui‐Xue Yin, Guo‐Fen Qiao, Bai‐Yan Li

CNS Neurosci Ther. 2021 May; 27(5): 540–551. Published online 2021 Jan 21. doi: 10.1111/cns.13589

PMCID:: PMC8025611

Abstract Article PDF–2.8M

Select item 786063620.

Diagnostic and severity scores for Cockayne syndrome

M. A. Spitz, F. Severac, C. Obringer, S. Baer, N. Le May, N. Calmels, V. Laugel

Orphanet J Rare Dis. 2021; 16: 63. Published online 2021 Feb 3. doi: 10.1186/s13023-021-01686-8

PMCID:: PMC7860636

Abstract Article PDF–1.0M

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