Works matching Xeroderma pigmentosum and genetics

Results: 139

Effects of selected genetic polymorphisms in xeroderma pigmentosum complementary group D on gastric cancer.

Published in:

Molecular Biology Reports, 2011, v. 38, n. 3, p. 1507, doi. 10.1007/s11033-010-0258-0

By:

Ziping Chen;
Chuanzhen Zhang;
Changqing Xu;
Kun Li;
Ruiping Hou;
Danping Li;
Xiaoli Cheng

Publication type:

Article

XPC and POLH/XPV Genes Mutated in a Genetic Cluster of Xeroderma Pigmentosum Patients in Northeast Brazil.

Published in:

Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.784963

By:

Castro, Ligia Pereira;
Batista-Vieira, Danilo;
de Souza, Tiago Antonio;
Timoteo, Ana Rafaela de Souza;
Coutinho, Jessica Dayanna Landivar;
Pinheiro de Almeida, Isabel Cristina;
Henriques, Sheila Ramos de Miranda;
Azevedo, Fabio Medeiros de;
Rosa, Reginaldo Cruz Alves;
Kannouche, Patricia L;
Sarasin, Alain;
Menck, Carlos Frederico Martins;
Petta, Tirzah Braz

Publication type:

Article

Genetic Diversity in Melanoma Metastases from a Patient with Xeroderma Pigmentosum.

Published in:

2010

By:

Yun Wang;
Tan, Xiao Hui;
DiGiovanna, John J.;
Richard Lee, Chyi-Chia;
Stern, Jere B;
Raffeld, Mark;
Jaffe, Elaine S.;
Kraemer, Kenneth H.

Publication type:

Letter

Xeroderma Pigmentosum: Ocular Findings in an Isolated Brazilian Group with an Identified Genetic Cluster.

Published in:

Journal of Ophthalmology, 2019, p. 1, doi. 10.1155/2019/4818162

By:

Schelini, Maria Claudia;
Chaves, Luis Fernando O. B.;
Toledo, Marcia C.;
Rodrigues, Francisco W.;
de Oliveira, Tauan;
Isaac, David L. C.;
Avila, Marcos

Publication type:

Article

The xeroderma pigmentosum group C gene polymorphisms and genetic susceptibility of nasopharyngeal carcinoma.

Published in:

Acta Oncologica, 2008, v. 47, n. 3, p. 379, doi. 10.1080/02841860701558815

By:

Zhi-Hui Yang;
Wei-Bo Liang;
Jing Jia;
Ye-Sheng Wei;
Bin Zhou;
Lin Zhang

Publication type:

Article

Xeroderma pigmentosum: From Symptoms and Genetics to Gene-Based Skin Therapy.

Published in:

Cells Tissues Organs, 2004, v. 177, n. 3, p. 189, doi. 10.1159/000079993

By:

Magnaldo, Thierry;
Sarasin, Alain

Publication type:

Article

A genetic mouse model carrying the nonfunctional xeroderma pigmentosum group G gene.

Published in:

Congenital Anomalies, 2003, v. 43, n. 2, p. 133, doi. 10.1111/j.1741-4520.2003.tb01037.x

By:

Sun, Xue-Zhi;
Harada, Yoshi-Nobu;
Zhang, Rui;
Cui, Chun;
Takahashi, Sentaro;
Fukui, Yoshihiro

Publication type:

Article

A genetic mouse model carrying the nonfunctional xeroderma pigmentosum group G gene.

Published in:

Clinical Genetics, 1993, v. 43, n. 2, p. 133, doi. 10.1111/j.1399-0004.1993.tb04431.x

By:

Sun, Xue-Zhi;
Harada, Yoshi-Nobu;
Zhang, Rui;
Cui, Chun;
Takahashi, Sentaro;
Fukui, Yoshihiro

Publication type:

Article

Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2018, v. 32, n. 5, p. 832, doi. 10.1111/jdv.14717

By:

Espi, P.;
Parajuli, S.;
Benfodda, M.;
Lebre, A.‐s.;
Paudel, U.;
Grange, A.;
Grybek, V.;
Grange, T.;
Soufir, N.;
Grange, F.

Publication type:

Article

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

Published in:

BioMed Research International, 2022, p. 1, doi. 10.1155/2022/8549532

By:

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

Publication type:

Article

A Stop Codon in Xeroderma Pigmentosum Group C Families in Turkey and Italy: Molecular Genetic Evidence for a Common Ancestor.

Published in:

Journal of Investigative Dermatology, 2001, v. 117, n. 2, p. 197, doi. 10.1046/j.1523-1747.2001.01424.x

By:

Gozukara, Engin M.;
Khan, Sikandar G.;
Metin, Ahmet;
Emmert, Steffen;
Busch, David B.;
Shahlavi, Tala;
Coleman, Donna M.;
Miller, Mark;
Chinsomboon, Nonglux;
Stefanini, Miria;
Kraemer, Kenneth H.

Publication type:

Article

PCR-RFLP Analysis as an Aid to Genetic Counseling of Families of Japanese Patients With Group A Xeroderma Pigmentosum.

Published in:

Journal of Investigative Dermatology, 1997, v. 109, n. 3, p. 306, doi. 10.1111/1523-1747.ep12335796

By:

Maeda, Tomoko;
Sato, Kenji;
Minami, Hironori;
Taguchi, Hiroyasu;
Yoshikawa, Kunihiko

Publication type:

Article

Genetic polymorphisms of xeroderma pigmentosum group D and prostate cancer risk: A meta-analysis.

Published in:

Journal of Cancer Research & Therapeutics, 2013, v. 9, n. 2, p. 187, doi. 10.4103/0973-1482.113345

By:

Hongcheng Zhu;
Songyu Cao;
Yun Liu;
Xiangxiang Ding;
Qianqian Wu;
Hongxia Ma

Publication type:

Article

An XPC and XPA genetic study on xeroderma pigmentosum patients in a Moroccan population.

Published in:

Our Dermatology Online / Nasza Dermatologia Online, 2020, v. 11, n. 4, p. 335, doi. 10.7241/ourd.20204.1

By:

Bay, Hanane Bay;
Rasso, Asmae;
Aqil, Niema;
Bouguenouch, Leila;
Ouldim, Karim;
Elloudi, Sara;
Douhi, Zakia;
Mernissi, Fatima Zahra

Publication type:

Article

ENFERMEDADES GENÉTICAS: XERODERMA PIGMENTOSO. AMOR A MEDIA NOCHE (2017).

Published in:

Revista de Medicina y Cine / Journal of Medicine & Movies, 2020, v. 16, n. 3, p. 235, doi. 10.14201/rmc2020163235238

By:

ROMERO-BENAVIDES, Juan Carlos;
BAILON-MOSCOSO, Natalia

Publication type:

Article

A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations.

Published in:

British Journal of Dermatology, 2017, v. 176, n. 5, p. 1270, doi. 10.1111/bjd.15084

By:

Munford, V.;
Castro, L.P.;
Souto, R.;
Lerner, L.K.;
Vilar, J. B.;
Quayle, C.;
Asif, H.;
Schuch, A.P.;
Souza, T.A.;
Ienne, S.;
Alves, F.I.A.;
Moura, L.M.S.;
Galante, P.A.F.;
Camargo, A.A.;
Liboredo, R.;
Pena, S.D.J.;
Sarasin, A.;
Chaibub, S.C.;
Menck, C.F.M.

Publication type:

Article

Association between three common genetic polymorphisms of xeroderma pigmentosum complementation group C (XPC) and susceptibility to opium dependency.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00612-4

By:

Qasemian-Talgard, Arghavan;
Saadat, Mostafa

Publication type:

Article

Molecular genetics of Xeroderma pigmentosum variant.

Published in:

Experimental Dermatology, 2003, v. 12, n. 5, p. 529, doi. 10.1034/j.1600-0625.2003.00124.x

By:

Gratchev, Alexei;
Strein, Pamela;
Utikal, Jochen;
Goerdt, Sergij

Publication type:

Article

Optimizing medical trips to care for those with rare genetic diseases in remote settings: lessons learned from xeroderma pigmentosum.

Published in:

International Journal of Dermatology, 2017, v. 56, n. 5, p. e104, doi. 10.1111/ijd.13586

By:

Probert, Allan;
Bailey, Celeste;
Ahrns, Hadjh;
Seiverling, Elizabeth

Publication type:

Article

Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.

Published in:

International Journal of Dermatology, 2010, v. 49, n. 5, p. 544, doi. 10.1111/j.1365-4632.2010.04421.x

By:

Messaoud, Olfa;
Ben Rekaya, Mariem;
Cherif, Wafa;
Talmoudi, Faten;
Boussen, Hammouda;
Mokhtar, Inçaf;
Boubaker, Samir;
Amouri, Ahlem;
Abdelhak, Sonia;
Zghal, Mohamed

Publication type:

Article

Clinical, immunological, and genetic investigations in a rare association of type 1 diabetes with xeroderma pigmentosum.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2022, v. 28, n. 3, p. 233, doi. 10.5114/pedm.2022.118318

By:

Taieb, Ach;
Ben Nacef, Imen;
Ghariani, Nadia;
Nabli, Nadia;
Hasni, Yosra;
Kacem, Maha;
Chaieb, Molka;
Maaroufi, Amel;
Denguezli, Mohamed;
Ach, Koussay

Publication type:

Article

Cancer, heredity and genetic counseling. Xeroderma pigmentosum.

Published in:

Cancer (0008543X), 1967, v. 20, n. 10, p. 1796, doi. 10.1002/1097-0142(196710)20:10<1796::AID-CNCR2820201031>3.0.CO;2-5

By:

Lynch, Henry T.;
Anderson, David E.;
Krush, Anne J.;
Mukerjee, Debdas

Publication type:

Article

A Novel Drug Resistance Mechanism: Genetic Loss of Xeroderma Pigmentosum Complementation Group C (XPC) Enhances Glycolysis-Mediated Drug Resistance in DLD-1 Colon Cancer Cells.

Published in:

Frontiers in Pharmacology, 2019, p. 1, doi. 10.3389/fphar.2019.00912

By:

Han, Yu;
Qu, Yuan Qing;
Mok, Simon Wing Fai;
Chen, Juan;
Xia, Cheng Lai;
He, Hu Qiang;
Li, Zheng;
Zhang, Wei;
Qiu, Cong Ling;
Liu, Liang;
Law, Betty Yuen Kwan;
Wong, Vincent Kam Wai

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2158

By:

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

Publication type:

Article

Clinical and Genetic Study of Xeroderma Pigmentosum.

Published in:

1990

By:

Al Rubaie, S. M.;
El Darouti, M. A.

Publication type:

Report

XERODERMA PIGMENTOSUM: GENETIC AND ENVIRONMENTAL INFLUENCES IN SKIN CARCINOGENESIS.

Published in:

International Journal of Dermatology, 1978, v. 17, n. 6, p. 435, doi. 10.1111/j.1365-4362.1978.tb06178.x

By:

Cleaver, James E.

Publication type:

Article

Squamous Cell Carcinoma in African Children with Xeroderma Pigmentosum: Three Case Reports.

Published in:

2016

By:

Kaloga, Mamadou;
Dioussé, Pauline;
Diatta, Boubacar Ahy;
Bammo, Mariama;
Kourouma, Sarah;
Diabate, Almamy;
Gueye, Ndiaga;
Dione, Haby;
Diallo, Moussa;
Diop, Bernard Marcel

Publication type:

Case Study

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

Published in:

2022

By:

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

Publication type:

Case Study

The French Cohort of DNA Repair-Deficient Xeroderma Pigmentosum Patients: Risk of Hematological Malignancies.

Published in:

Cancers, 2023, v. 15, n. 10, p. 2706, doi. 10.3390/cancers15102706

By:

Sarasin, Alain

Publication type:

Article

Xeroderma Pigmentosum-Associated Childhood Interstitial Lung Disease.

Published in:

Turkish Thoracic Journal / Turk Toraks Dergisi, 2022, v. 23, n. 2, p. 192, doi. 10.5152/TurkThoracJ.2022.20304

By:

Kamble, Samiksha;
Utpat, Ketaki;
Desai, Unnati;
Joshi, Jyotsna;
Bharmal, Ramesh

Publication type:

Article

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

Published in:

Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19633-9

By:

Yurchenko, Andrey A.;
Padioleau, Ismael;
Matkarimov, Bakhyt T.;
Soulier, Jean;
Sarasin, Alain;
Nikolaev, Sergey

Publication type:

Article

Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1060

By:

Ali, Muhammad Z.;
Blatterer, Jasmin;
Khan, Muzammil A.;
Schaflinger, Erich;
Petek, Erwin;
Ahmad, Safeer;
Khan, Ejazullah;
Windpassinger, Christian

Publication type:

Article

Full Facial Resurfacing Followed by Enucleation in a Patient with Xeroderma Pigmentosum: A Case Report.

Published in:

Selcuk University Medical Journal, 2025, v. 41, n. 2, p. 110, doi. 10.30733/std.2025.01849

By:

Halbony, Hala;
Ceviz, Mahmut Durak;
Dincgözoglu, Abdullah;
Bekerecioglu, Mehmet

Publication type:

Article

Approaches to Photoprotection and Normalization in Highly Adherent Families of Children With Xeroderma Pigmentosum in the United Kingdom.

Published in:

Qualitative Health Research, 2020, v. 30, n. 8, p. 1275, doi. 10.1177/1049732319826561

By:

Anderson, Rebecca;
Walburn, Jessica;
Morgan, Myfanwy

Publication type:

Article

Transfection of cells from a xeroderma pigmentosum patient with normal human DNA confers UV resistance.

Published in:

Nature, 1982, v. 296, n. 5854, p. 269, doi. 10.1038/296269a0

By:

Takano, Toshiya;
Noda, Makoto;
Tamura, Taka-aki

Publication type:

Article

DNA polymerase η is an A-T mutator in somatic hypermutation of immunoglobulin variable genes.

Published in:

Nature Immunology, 2001, v. 2, n. 6, p. 537, doi. 10.1038/88740

By:

Zeng, Xianmin;
Winter, David B.;
Kasmer, Cynthia;
Kraemer, Kenneth H.;
Lehmann, Alan R.;
Gearhart, Patricia J.

Publication type:

Article

Beyond Huntington’s Disease – Late-Onset Chorea Caused by a Homozygous Variant in ERCC4.

Published in:

Cerebellum, 2025, v. 24, n. 1, p. 1, doi. 10.1007/s12311-024-01755-1

By:

Barthel, Paula C.;
Popa, Bertrand;
Ebert, Anne;
Mohamed, Sherif A.;
Weishaupt, Jochen;
Conrad, Julian

Publication type:

Article

Topical Therapy for Ocular Surface Squamous Neoplasia.

Published in:

U.S. Ophthalmic Review, 2013, v. 6, n. 2, p. 154

By:

Bitner, Derek;
Stone, Donald U.

Publication type:

Article

Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review.

Published in:

International Journal of Trichology, 2012, v. 4, n. 3, p. 158, doi. 10.4103/0974-7753.100075

By:

Ferrando, Juan;
Mir-Bonafé, José M.;
Cepeda-Valdés, Rodrigo;
Domínguez, Anna;
Ocampo-Candiani, Jorge;
García-Veigas, Javier;
Gómez-Flores, Minerva;
Salas-Alanis, Julio C.

Publication type:

Article

Peripheral Neuropathy in Four Cases of Group A Xeroderma Pigmentosum.

Published in:

Journal of Child Neurology, 1988, v. 3, n. 2, p. 114, doi. 10.1177/088307388800300207

By:

Tachi, Nobutada;
Sasaki, Kimio;
Kusano, Takashi;
Wakai, Shuji;
Nagaoka, Masato;
Annaka, Shunpei;
Minami, Ryoji;
Imamura, Shigetaka

Publication type:

Article

MULTI-PARAMETRIC APPROACH FOR THE INVESTIGATION OF INFLAMMATORY BIOMARKERS IN CUTANEOUS MELANOMA MICROENVIRONMENT XERODERMA PIGMENTOSUM AS A MODEL.

Published in:

Archives de l'Institut Pasteur de Tunis, 2020, v. 97, n. 1-4, p. 68

By:

CHIKHAOUI, A.;
NABOULI, I.;
JONES, M.;
BENAHMED, M.;
NAOUALI, C.;
ZGHAL, M.;
ABDELHAK, S.;
BOUBAKER, S.;
YACOUB-YOUSSEF, H.

Publication type:

Article

Multiple basal cell carcinomas revealing a biallelic MUTYH gene mutation in a 39‐year‐old male patient.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2023, v. 37, n. 3, p. e327, doi. 10.1111/jdv.18592

By:

Tzoumpa, Sofia;
Sevenet, Nicolas;
Bejar‐Ardiles, Claudia‐Luisa;
Villette, Béatrice;
Zumelzu, Coralie;
Benamouzig, Robert;
Caux, Frédéric;
Maubec, Eve

Publication type:

Article

Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH.

Published in:

EMBO Journal, 1999, v. 18, n. 5, p. 1357, doi. 10.1093/emboj/18.5.1357

By:

Coin, Frédéric;
Bergmann, Etienne;
Tremeau-Bravard, Alexandre;
Egly, Jean-Marc

Publication type:

Article

Topical drug rescue strategy and skin protection based on the role of Mc1r in UV-induced tanning.

Published in:

2006

By:

D'Orazio, John A.;
Nobuhisa, Tetsuji;
Cui, Rutao;
Arya, Michelle;
Spry, Malinda;
Wakamatsu, Kazumasa;
Igras, Vivien;
Kunisada, Takahiro;
Granter, Scott R.;
Nishimura, Emi K.;
Ito, Shosuke;
Fisher, David E.

Publication type:

Letter

ANGIOMA AS A CLUE TO THE DIAGNOSIS OF XERODERMA PIGMENTOSUM.

Published in:: European Journal of Pediatric Dermatology, 2020, v. 30, n. 3, p. 172
Publication type:: Article

XERODERMA PIGMENTOSUM.

Published in:

British Journal of Dermatology, 1965, v. 77, n. 1, p. 35

By:

El-Hefnawi, H.;
Smith, Sheila Maynard

Publication type:

Article

A meta-analysis of DNA repair gene XPC polymorphisms and cancer risk.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 1, p. 18, doi. 10.1007/s10038-007-0215-5

By:

Deqiang Zhang;
Chengwen Chen;
Xuping Fu;
Shaohua Gu;
Yumin Mao;
Yi Xie;
Yan Huang;
Yao Li

Publication type:

Article

Relationship between XPD Lys 751 Gln polymorphism and colorectal cancer risk: a case-control study in a population-based study.

Published in:

Gastroenterology & Hepatology from Bed to Bench, 2013, v. 6, n. 1, p. 18

By:

Rezaei, Hojatolah;
Motovali-Bashi, Majid;
Khodadad, Kian;
Elahi, Ali;
Emami, Habib;
Naddaffnia, Hossein

Publication type:

Article

In vitro evaluation of the protective activity of T4N5 liposomal lotion on dermal fibroblasts from Xeroderma Pigmentosum.

Published in:

Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2023, p. 275

By:

Di Liddo, Rosa;
Fortina, Anna Belloni;
Caroppo, Francesca;
Peggion, Cristina;
Biondi, Barbara;
Pagetta, Andrea;
Cividini, Andrea;
Citernesi, Ugo

Publication type:

Article

Mechanisms of tolerance to DNA lesions in mammalian cells.

Published in:

Quarterly Reviews of Biophysics, 1981, v. 14, n. 3, p. 381, doi. 10.1017/S0033583500002353

By:

Meneghini, Rogerio;
Menck, Carlos F. M.;
Schumacher, R. Ivan

Publication type:

Article