Works about XERODERMA pigmentosum

Results: 864

Xeroderma Pigmentosum ve Psikoz İlişkisi: Bir Olgu.

Published in:

Klinik Psikofarmakoloji Bulteni, 2008, v. 18, n. 1, p. 55

By:

Dankı Erken, Demet;
Tuncer Okay, İhsan;
Dilbaz, Doç. Dr. Nesrin

Publication type:

Article

Regulation of Nucleotide Excision Repair by UV-DDB: Prioritization of Damage Recognition to Internucleosomal DNA.

Published in:

PLoS Biology, 2011, v. 9, n. 10, p. 1, doi. 10.1371/journal.pbio.1001183

By:

Fei, Jia;
Kaczmarek, Nina;
Luch, Andreas;
Glas, Andreas;
Carell, Thomas;
Naegeli, Hanspeter

Publication type:

Article

Differentiation Driven Changes in the Dynamic Organization of Basal Transcription Initiation.

Published in:

PLoS Biology, 2009, v. 7, n. 10, p. 1, doi. 10.1371/journal.pbio.1000220

By:

Giglia-Mari, Giuseppina;
Theil, Arjan F.;
Mari, Pierre-Olivier;
Mourgues, Sophie;
Nonnekens, Julie;
Andrieux, Lise O.;
de Wit, Jan;
Miquel, Catherine;
Wijgers, Nils;
Maas, Alex;
Fousteri, Maria;
Hoeijmakers, Jan H. J.;
Vermeulen, Wim

Publication type:

Article

An Aromatic Sensor with Aversion to Damaged Strands Confers Versatility to DNA Repair.

Published in:

PLoS Biology, 2007, v. 5, n. 4, p. 0717, doi. 10.1371/journal.pbio.0050079

By:

Maillard, Olivier;
Solyom, Szilvia;
Naegeli, Hanspeter

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

Place de la radiothérapie dans le traitement des tumeurs cutanées chez huit patients atteints de xeroderma pigmentosum.

Published in:

Oncologie (Tech Science Press), 2008, v. 10, n. 3, p. 213, doi. 10.1007/s10269-007-0738-6

By:

Mseddi, M.;
Ghorbel, S.;
Siala, W.;
Marrekchi, S.;
Masmoudi, A.;
Daoud, J.;
Turki, H.

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

Physicochemical Composition of Osteoporotic Bone in the Trichothiodystrophy Premature Aging Mouse Determined by Confocal Raman Microscopy.

Published in:

Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2007, v. 62, n. 1, p. 34, doi. 10.1093/gerona/62.1.34

By:

Van Apeldoom, Aart A.;
De Boer, Jan;
Van Steeg, Harry;
Hoeijmakers, Jan H. J.;
Otto, Cees;
Van Blitterswijk, Clemens A.

Publication type:

Article

School in photodermatology: Smith–Lemli–Opitz syndrome.

Published in:

Photodermatology, Photoimmunology & Photomedicine, 2006, v. 22, n. 4, p. 200, doi. 10.1111/j.1600-0781.2006.00231.x

By:

Anstey, Alex

Publication type:

Article

Astaxanthin enhances erlotinib-induced cytotoxicity by p38 MAPK mediated xeroderma pigmentosum complementation group C (XPC) down-regulation in human lung cancer cells.

Published in:

Toxicology Research, 2018, v. 7, n. 6, p. 1247, doi. 10.1039/c7tx00292k

By:

Chen, Jyh-Cheng;
Wu, Chia-Hung;
Peng, Yi-Shuan;
Zheng, Hao-Yu;
Lin, Yuan-Cheng;
Ma, Peng-Fang;
Yen, Ting-Chuan;
Chen, Tzu-Ying;
Lin, Yun-Wei

Publication type:

Article

Association study between XPG Asp1104His polymorphism and colorectal cancer risk in a Chinese population.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep06700

By:

Haina Du;
Xizhi Zhang;
Mulong Du;
Nannan Guo;
Zhipeng Chen;
Yongqian Shu;
Zhengdong Zhang;
Meilin Wang;
Lingjun Zhu

Publication type:

Article

The Xeroderma pigmentosum syndrome: an experience of integral attention to children with special needs in Cuba.

Published in:

Revista Latinoamericana de Hipertension, 2020, v. 15, n. 2, p. 106

By:

Pérez-Chávez, Diana Estela;
Llópiz-Guerra, Karel;
Lira, Luis Alberto Núñez;
Garay, Jessica Paola Palacios;
Vargas, Isabel Menacho;
Hernández, Ronald M.

Publication type:

Article

Dexmedetomidine as an anaesthetic adjunct for total intravenous anaesthesia in patients with xeroderma pigmentosum.

Published in:

Sri Lankan Journal of Anaesthesiology, 2016, v. 24, n. 2, p. 92, doi. 10.4038/slja.v24i2.8144

By:

Parajuli, B. D.;
Shrestha, G. S.;
Shakya, B. M.;
Sharma, A.;
Acharya, P.;
Acharya, S.;
Maskey, S.

Publication type:

Article

Xeroderma Pigmentosum C (XPC) Mutations in Primary Fibroblasts Impair Base Excision Repair Pathway and Increase Oxidative DNA Damage.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.561687

By:

Fayyad, Nour;
Kobaisi, Farah;
Beal, David;
Mahfouf, Walid;
Ged, Cécile;
Morice-Picard, Fanny;
Fayyad-Kazan, Mohammad;
Fayyad-Kazan, Hussein;
Badran, Bassam;
Rezvani, Hamid R.;
Rachidi, Walid

Publication type:

Article

Dexmedetomidine and ketamine combination for a patient with xeroderma pigmentosa.

Published in:

Journal of Anesthesia, 2015, v. 29, n. 3, p. 457, doi. 10.1007/s00540-014-1928-1

By:

Goyal, Rakhee;
Islam, Mubashir

Publication type:

Article

Marathon of eponyms: 11 Kaposi sarcoma.

Published in:

Oral Diseases, 2010, v. 16, n. 4, p. 402, doi. 10.1111/j.1601-0825.2009.01543.x

By:

Scully, C;
Langdon, J;
Evans, J

Publication type:

Article

A new POLH mutation in a consanguineous Chinese family with xeroderma pigmentosum variant type.

Published in:

Clinical & Experimental Dermatology, 2022, v. 47, n. 11, p. 2069, doi. 10.1111/ced.15313

By:

OuYang, Xiaoliang;
Zhang, Deng;
Wang, Xiuping;
Yu, Simin;
Xiao, Zhen;
Li, Chunming

Publication type:

Article

Multiple skin cancers in patients with mycosis fungoides after long-term ultraviolet phototherapy.

Published in:

Clinical & Experimental Dermatology, 2017, v. 42, n. 5, p. 523, doi. 10.1111/ced.13121

By:

Imafuku, K.;
Hata, H.;
Yanagi, T.;
Kitamura, S.;
Inamura ‐ Takashima, Y.;
Nishimura, M.;
Moriwaki, S.;
Shimizu, H.

Publication type:

Article

Xeroderma pigmentosum: early diagnostic features and an adverse consequence of photoprotection.

Published in:

Clinical & Experimental Dermatology, 2009, v. 34, n. 3, p. 442, doi. 10.1111/j.1365-2230.2008.02865.x

By:

Ali, J. T.;
Mukasa, Y.;
Coulson, I. H.

Publication type:

Article

The treatment of basal skin carcinomas in two sisters with xeroderma pigmentosum.

Published in:

Clinical & Experimental Dermatology, 2003, v. 28, p. 30, doi. 10.1046/j.1365-2230.28.s1.10.x

By:

Roseeuw, D.

Publication type:

Article

The treatment of basal cell carcinomas in a patient with xeroderma pigmentosum with a combination of imiquimod 5% cream and oral acitretin.

Published in:

Clinical & Experimental Dermatology, 2003, v. 28, p. 33, doi. 10.1046/j.1365-2230.28.s1.11.x

By:

Giannotti, B.;
Vanzi, L.;
Difonzo, E.M.;
Pimpinelli, N.

Publication type:

Article

Kaposi's varicelliform eruption due to herpes simplex in Darier's disease.

Published in:

Clinical & Experimental Dermatology, 1994, v. 19, n. 5, p. 428, doi. 10.1111/j.1365-2230.1994.tb02703.x

By:

Parslew, R.;
Verbov, J. L.

Publication type:

Article

A child with xeroderma pigmentosum and G6PD deficiency.

Published in:

Clinical & Experimental Dermatology, 1982, v. 7, n. 2, p. 213, doi. 10.1111/j.1365-2230.1982.tb02412.x

By:

Harper, J. I.;
Copeman, P. W. M.

Publication type:

Article

Carcinoma of the tongue in a boy with xeroderma pigmentosum.

Published in:

Clinical & Experimental Dermatology, 1981, v. 6, n. 4, p. 601, doi. 10.1111/j.1365-2230.1981.tb02363.x

By:

Harper, J. I.;
Copeman, P. W. M.

Publication type:

Article

Xeroderma pigmentosum protein XPD controls caspase-mediated stress responses.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-53755-8

By:

Wei, Hai;
Weaver, Yi M.;
Weaver, Benjamin P.

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

Acitretin systemk and retinoic acid 0.1% cream supression of basal cell carcinoma.

Published in:

Dermatology Reports, 2010, v. 2, n. 1, p. 9, doi. 10.4081/dr.2010.e4

By:

Xi-Bao Zhang;
San-Quan Zhang;
Chang-Xing Li;
Zhen-Ming Huang;
Yu-Wu Luo

Publication type:

Article

Lack of association between three common genetic variations of XPC and susceptibility to age-related macular degeneration, a preliminary study.

Published in:

Egyptian Journal of Medical Human Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s43042-020-00060-w

By:

Kalteh, Sharareh;
Saadat, Mostafa

Publication type:

Article

High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.

Published in:

Pigment Cell & Melanoma Research, 2014, v. 27, n. 3, p. 454, doi. 10.1111/pcmr.12226

By:

Masaki, Taro;
Wang, Yun;
DiGiovanna, John J.;
Khan, Sikandar G.;
Raffeld, Mark;
Beltaifa, Senda;
Hornyak, Thomas J.;
Darling, Thomas N.;
Lee, Chyi ‐ Chia R.;
Kraemer, Kenneth H.

Publication type:

Article

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

Published in:

PLoS ONE, 2022, v. 17, n. 7, p. 1, doi. 10.1371/journal.pone.0271246

By:

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

Publication type:

Article

Association of XPA Polymorphisms Towards Lung Cancer Susceptibility and its Predictive Role in Overall Survival of North Indians.

Published in:

Biochemical Genetics, 2018, v. 56, n. 4, p. 375, doi. 10.1007/s10528-018-9850-0

By:

Lawania, Shweta;
Singh, Navneet;
Behera, Digambar;
Sharma, Siddharth

Publication type:

Article

Molecular Studies of Japanese Patients With Group A Xeroderma Pigmentosum Using Polymerase...

Published in:

Journal of Child Neurology, 1999, v. 14, n. 3, p. 168

By:

Sumitani, Susumu;
Ishikawa, Yikotoshi;
Ishikawa, Yuka;
Minami, Ryoji

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

Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2020, v. 34, n. 10, p. 2392, doi. 10.1111/jdv.16405

By:

Santiago, K.M.;
Castro, L.P.;
Neto, J.P.D.;
Nóbrega, A.F.;
Pinto, C.A.L.;
Ashton‐Prolla, P.;
Pinto e Vairo, F.;
Medeiros, P.F.V.;
Ribeiro, E.M.;
Ribeiro, B.F.R.;
Valle, F.F.;
Doriqui, M.J.R.;
Leite, C.H.B.;
Rocha, R.M.;
Moura, L.M.S.;
Munford, V.;
Galante, P.A.F.;
Menck, C.F.M.;
Rogatto, S.R.;
Achatz, M.I.

Publication type:

Article

Misinsertion and bypass of thymine-thymine dimers by human DNA polymerase ?

Published in:

EMBO Journal, 2000, v. 19, n. 19, p. 5259, doi. 10.1093/emboj/19.19.5259

By:

Tissier, Agnès;
Frank, Ekaterina G.;
McDonald, John P.;
Iwai, Shigenori;
Hanaoka, Fumio;
Woodgate, Roger

Publication type:

Article

Mechanisms of accurate translesion synthesis by human DNA polymerase ?

Published in:

EMBO Journal, 2000, v. 19, n. 12, p. 3100, doi. 10.1093/emboj/19.12.3100

By:

Masutani, Chikahide;
Kusumoto, Rika;
Iwai, Shigenori;
Hanaoka, Fumio

Publication type:

Article

UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome.

Published in:

EMBO Journal, 2000, v. 19, n. 5, p. 1157, doi. 10.1093/emboj/19.5.1157

By:

Berneburg, Mark;
Lowe, Jillian E.;
Nardo, Tiziana;
Araújo, Sofia;
Fousteri, Maria I.;
Green, Michael H. L.;
Krutmann, Jean;
Wood, Richard D.;
Stefanini, Miria;
Lehmann, Alan R.

Publication type:

Article

Purification and biochemical characterization of interchromatin granule clusters.

Published in:

EMBO Journal, 1999, v. 18, n. 15, p. 4308, doi. 10.1093/emboj/18.15.4308

By:

Mintz, Paul J.;
Patterson, Scott D.;
Neuwald, Andrew F.;
Spahr, Chris S.;
Spector, David L.

Publication type:

Article

Xeroderma pigmentosum variant (XP-V) correcting protein from HeLa cells has a thymine dimer bypass DNA polymerase activity.

Published in:

EMBO Journal, 1999, v. 18, n. 12, p. 3491, doi. 10.1093/emboj/18.12.3491

By:

Masutani, Chikahide;
Araki, Marito;
Yamada, Ayumi;
Kusumoto, Rika;
Nogimori, Tomokazu;
Maekawa, Takafumi;
Iwai, Shigenori;
Hanaoka, Fumio

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

Mechanism of open complex and dual incision formation by human nucleotide excision repair factors.

Published in:

EMBO Journal, 1997, v. 16, n. 21, p. 6559, doi. 10.1093/emboj/16.21.6559

By:

Evans, Elizabeth;
Moggs, Jonathans G.;
Hwang, Jae R.;
Egly, Jean-Marc;
Wood, Richard D.

Publication type:

Article

Open complex formation around a lesion during nucleotide excision repair provides a structure for cleavage by human XPG protein.

Published in:

EMBO Journal, 1997, v. 16, n. 3, p. 625, doi. 10.1093/emboj/16.3.625

By:

Evans, Elizabeth;
Fellows, Jane;
Coffer, Arnold;
Wood, Richard D.

Publication type:

Article

Atypical Fibroxanthoma and Squamous Cell Carcinoma of the Conjunctiva in Xeroderma Pigmentosum.

Published in:

Pediatric & Developmental Pathology, 2007, v. 10, n. 2, p. 149, doi. 10.2350/06-06-0103.1

By:

Lei Shao;
Newell, Brandon;
Quintanilla, Norma

Publication type:

Article

Molecular basis of xeroderma pigmentosum group C DNA recognition by engineered meganucleases.

Published in:

Nature, 2008, v. 456, n. 7218, p. 107, doi. 10.1038/nature07343

By:

Redondo, Pilar;
Prieto, Jesús;
Muñoz, Inés G.;
Alibés, Andreu;
Stricher, Francois;
Serrano, Luis;
Cabaniols, Jean-Pierre;
Daboussi, Fayza;
Arnould, Sylvain;
Perez, Christophe;
Duchateau, Philippe;
Pâques, Frédéric;
Blanco, Francisco J.;
Montoya, Guillermo

Publication type:

Article

Recognition of DNA damage by the Rad4 nucleotide excision repair protein.

Published in:

Nature, 2007, v. 449, n. 7162, p. 570, doi. 10.1038/nature06155

By:

Min, Jung-Hyun;
Pavletich, Nikola P.

Publication type:

Article

A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.

Published in:

Nature, 2006, v. 444, n. 7122, p. 1038, doi. 10.1038/nature05456

By:

Niedernhofer, Laura J.;
Garinis, George A.;
Raams, Anja;
Lalai, Astrid S.;
Robinson, Andria Rasile;
Appeldoorn, Esther;
Odijk, Hanny;
Oostendorp, Roos;
Ahmad, Anwaar;
van Leeuwen, Wibeke;
Theil, Arjan F.;
Vermeulen, Wim;
van der Horst, Gijsbertus T. J.;
Meinecke, Peter;
Kleijer, Wim J.;
Vijg, Jan;
Jaspers, Nicolaas G. J.;
Hoeijmakers, Jan H. J.

Publication type:

Article

Effect of point substitutions within the minimal DNA-binding domain of xeroderma pigmentosum group a protein on interaction with DNA intermediates of nucleotide excision repair.

Published in:

Biochemistry (00062979), 2014, v. 79, n. 6, p. 545, doi. 10.1134/S000629791406008X

By:

Maltseva, E.;
Krasikova, Y.;
Naegeli, H.;
Lavrik, O.;
Rechkunova, N.

Publication type:

Article

Multiple DNA damage recognition factors involved in mammalian nucleotide excision repair.

Published in:

Biochemistry (00062979), 2011, v. 76, n. 1, p. 16, doi. 10.1134/S0006297911010044

By:

Sugasawa, K.

Publication type:

Article

Interaction of nucleotide excision repair factors XPC-HR23B, XPA, and RPA with damaged DNA.

Published in:

Biochemistry (00062979), 2008, v. 73, n. 8, p. 886, doi. 10.1134/S0006297908080063

By:

Krasikova, Yu. S.;
Rechkunova, N. I.;
Maltseva, E. A.;
Petruseva, I. O.;
Silnikov, V. N.;
Zatsepin, T. S.;
Oretskaya, T. S.;
Scharer, O. D.;
Lavrik, O. I.

Publication type:

Article

How to perform ablative laser surgery for skin resurfacing?

Published in:

Turkderm - Turkish Archives of Dermatology & Venereology, 2022, v. 56, n. 1, p. 46, doi. 10.4274/turkderm.galenos.2021.33339

By:

Çalışkan, Ercan;
Botsalı, Ayşenur

Publication type:

Article