Results 91 to 100 of about 53,382 (220)

Accurate diagnostics of ataxia-telangiectasia cellular phenotype by employing in vitro lymphocyte radiosensitivity testing [PDF]

Nuclear Technology and Radiation Protection, 2013
In this paper we present the data of lymphocyte radiosensitivity testing used for characterization of radiosensitive cellular phenotype and diagnostics of ataxia-telangiectasia disease. We point out the advantage of lymphocyte micronucleus test (CBMN)
Vujić Dragana S., Petrović Sandra Ž., Leskovac Andreja R., Joksić Ivana D., Filipović Jelena G., Valenta-Šobot Ana P.   +5 more
doaj   +1 more source

Predominance of null mutations in ataxia-telangiectasia [PDF]

, 1996
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity and cancer predisposition.
Bar-Shira, A. (Anat), Chessa, T. (Antonio), Frydman, M. (Moshe), Gatti, A. (Arianna), Gilad, S. (Shlomit), Goldwicz, Z. (Zipora), Harnik, R. (Reli), Jaspers, N.G.J. (Nicolaas), Jorgensen, T.J. (Timothy), Khosravi, R. (Rami), Lavin, M.F. (Martin), Lenoir, G.M. (Gilbert), Portnoi, S. (Sima), Rotman, G. (Galit), Sanal, O. (Ozden), Savitsky, K. (Kinneret), Shiloh, Y. (Yosef), Shkedy, D. (Dganit), Smith, S. (Sarah), T. Uziel (Tamar), Tatsumi, K. (Kouichi), Wegner, M. (Michael), Ziv, Y. (Yael)   +22 more
core   +2 more sources

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Cellular Radiosensitivity: How much better do we understand it? [PDF]

, 2009
Purpose: Ionizing radiation exposure gives rise to a variety of lesions in DNA that result in genetic instability and potentially tumorigenesis or cell death.
Agrawal A, Ahel I, Ahnesorg P, Ali A, Anderson RM, Awa AA, Azzam E.I., Bailey SM, Bakkenist CJ, Beamish H, Bedford JS, Bedford JS, Bender MA, Berkovich E, Biedermann KA, Blunt T, Booth C, Bosma GC, Breslin C, Brown GL, Brown JM, Buck D, Carney JP, Cerosaletti K, Cerosaletti K, Chan DW, Chan DW, Chapman JD, Chen P.C., Clements PM, Cornforth MN, Cornforth MN, Cornforth MN, Curtis SB, Davis ME, de Jager M, Deans B, Dianor II, Ding Q, Dizdaroglu M, Doil C, El-Khamisy SF, El-Khamisy SF, Emmerson PT, Falck J, Falck J, Foray N, Game JC, Gao Y, Gatti RA, Georgakilas AG, Germain M, Godthelp BC, Goffman TE, Goldman M, Goldstein L, Goodarzi AA, Goodarzi AA, Goodhead DT, Grawunder U, Gueven N, Gueven N, Gueven N, Hirano M, Ho KS, Ho KY, Holliday R, Hopfner KP, Houldsworth J, Huen MS, Iliakis G, Iliakis G, Iliakis G, Jackson SP, Jazayeri A, Jeggo PA, Jeggo PA, Jeggo PA, Jeggo PA, Joiner MC, Joiner MC, Kankura T, Kastan MB, Kato TA, Kemp LM, Kemp LM, Khanna KK, Kitagawa R, Kolas NK, Kozlov SV, Krueger SA, Kurz EU, Lavin MF, Lavin MF, Lehmann AR, Li Z, Lindahl T, Lisker R, Little JB, Liu N, Liu Y, Lobrich M, Lockart RZ, Loken MK, Macklis RM, Mailand N, Marples B, Marples B, Martin F. Lavin, Maser RS, Miller RW, Mirzoeva OK, Morgan WF, Morgan WF, Moshous D, Mothersill C, Moynahan ME, Muhlmann-Diaz MC, Muller B, Nakamura J, Neel JV, Nelms BE, Nicolas N, Nikjoo H, O'Driscoll M, O'Driscoll M, Olive PL, Olive PL, Otake M, Ouyang H, Painter RB, Pandita TK, Parsons PA, Paull TT, Paull TT, Paull TT, Penny Jeggo, Peters LJ, Potten CS, Pourquier P, Pourquier P, Purdy JA, Radford IR, Radford JR, Ratnayake RK, Resnick MA, Riballo E, Robins HI, Rothkamm K, Rothkamm K, Rothkamm K, Royal HD, Samson L, Savitsky K, Sax K, Sedgwick RP, Shinohara A, Shreeram S, Singh NP, Spivak G, Stamato TD, Stamato TD, Stewart GS, Stewart GS, Stewart GS, Strzelczyk JJ, Sun Y, Sun Y., Sutherland JC, Taccioli GE, Takashima H, Tapio S, Taylor AM, Taylor AMR, Teoule R, Terasima T, Thacker J, Thacker J, Thacker J, Thierry-Chef I, Thompson LH, Thompson LH, Uziel T, van den Bosch M, van der Schans GP, Varon R, von Sonntag C, Walker JR, Wall BF, Wallach DF, Waltes R, Ward IM, Ward JF, Ward JF, Weemaes CMR, Whitmore GF, Willetts NS, Williams RS, Wolff S, Wolff S, Wolff S, Wolff S, Woo SY, Wood RD, Wykes SM, Wyman C, Yoshimaru H, Yoshimoto Y, You Z, Zdzienicka MZ, Zdzienicka MZ, Zdzienicka MZ, Zhao W, Zhou T, Ziv Y   +214 more
core   +1 more source

Complementary and Integrative Medicine for the Treatment of Tourette's Syndrome

Movement Disorders Clinical Practice, EarlyView.
Abstract Background There is widespread interest in complementary and integrative medicine (CIM) among people with Tourette's syndrome (TS). Objective To perform a systematic review of evidence on the use of CIM to reduce tics and improve tic‐related quality of life.
Tamara Pringsheim, Catherine Deans, Saar Anis, Poonam Bhatia, Kevin Black, Yildiz Degirmenci, Donald Gilbert, Andreas Hartmann, Mariam Hull, Irene Malaty, Davide Martino, Alex Medina Escobar, Pablo Mir, Christelle Nilles, Marianna Sarchioto, Jibrin Sammani Usman, Harini Sarva, Katarzyna Smilowksa, Natalia Szejko, Kinga Tomczak, Daniel van Wamelen, Yulia Worbe   +21 more
wiley   +1 more source

Genomic stability in response to high versus low linear energy transfer radiation in Arabidopsis thaliana. [PDF]

, 2014
Low linear energy transfer (LET) gamma rays and high LET HZE (high atomic weight, high energy) particles act as powerful mutagens in both plants and animals.
Britt, Anne B, Conklin, Phillip A, Friesner, Joanna D, Huefner, Neil D, Yoshiyama, Kaoru   +4 more
core   +1 more source

Urologic Bacteriome: The Hero or the Villain in Prostate Cancer Onset, Progression, and Treatment?

Medicinal Research Reviews, EarlyView.
ABSTRACT Prostate cancer (PCa) is the second most frequently diagnosed cancer in men worldwide and the fifth leading cause of cancer‐related mortality, presenting urgent unmet clinical needs in diagnosis and treatment. The recognition of the microbiome as a key factor in human health has prompted numerous studies, revealing an exciting new approach to ...
Lara R. S. Fonseca, Mariana Feijó, Cátia V. Vaz, Bruno J. Pereira, Sandra Laurentino, Ana Palmeira‐de‐Oliveira, Sílvia Socorro   +6 more
wiley   +1 more source

Case Presentation: Large Diffuse B-cell Lymphoma Developing in the Context of Primary Immunodeficiency

Çocuk Dergisi
Ataxia Telangiectasia (AT) is a rare, autosomal recessive neurodegenerative disorder characterized by immunodeficiency. Clinically, it is known to be associated with progressive cerebellar ataxia starting in early childhood, oculocutaneous telangiectasia,
Hikmet Gülşah Tanyıldız, Hasan Atalay Tuncay, Şifa Şahin, Yasin Yılmaz, Serap Karaman   +4 more
doaj   +1 more source

Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay [PDF]

, 2017
Breast cancer risk drastically increases in individuals with a heterozygous germline BRCA1 or BRCA2 mutation, while it is estimated to equal the population risk for relatives without the familial mutation (non-carriers).
Baert, Annelot, Claes, Kathleen, De Leeneer, Kim, De Nobele, Sylvia, Depuydt, Julie, Malfait, Fransiska, Perletti, Gianpaolo, Poppe, Bruce, Van Damme, Tim, Van Maerken, Tom, Vral, Anne   +10 more
core   +1 more source

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho, Pedro Lucas G. S. B. Lima, Tito B. S. Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T. A. Furtado, Ana Lucila Moreira, André L. S. Pessoa, Paulo R. Nóbrega, Pedro Braga‐Neto   +8 more
wiley   +1 more source