Results 111 to 120 of about 554,004 (364)

IMPDH inhibition enhances cytarabine efficacy in SAMHD1‐expressing leukaemia cells via guanine nucleotide depletion

Molecular Oncology, EarlyView.
Cytarabine is a key therapy for acute myeloid leukaemia (AML), but its efficacy is limited by the dNTPase SAMHD1, which hydrolyses its active metabolite. Screening nucleotide biosynthesis inhibitors revealed that IMPDH inhibitors selectively sensitise SAMHD1‐proficient AML cells to cytarabine.
Miriam Yagüe‐Capilla, Christopher Dirks, Caroline Eiden, Sonja K. Fesenmayer, Femke M. Hormann, Yolande Klootsema, Ingrid Lilienthal, Si Min Zhang, Nikolas Herold, Sean G. Rudd   +9 more
wiley   +1 more source

Reticulate Pigmentary Disorders: a review

Pigment International, 2019
Reticulate pigmentary disorders include presentations with “net-like,” “sieve-like,” or “chicken wire” configuration of the skin lesions. Various congenital and acquired dermatoses, as well as few systemic diseases, are present with this pattern of skin ...
Surabhi Sinha, Anita Kulhari
doaj   +1 more source

Genetics of human X-linked immunodeficiency diseases [PDF]

Clinical and Experimental Immunology, 1991
R W, Hendriks, R K, Schuurman
openaire   +2 more sources

The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior

, 2007
Recently, we defined a new syndromic form of X-linked mental retardation in a 4-generation family with a unique clinical phenotype characterized by mild mental retardation, choreoathetosis, and abnormal behavior (MRXS10).
Loessner, Daniela, Engert, Stefanie, Lenski, Claus, Schwartz, Charles E., Wanders, Ronald J. A., Frank Kooy, R., Meindl, Alfons, Ramser, Juliane, Winnepenninckx, Birgitta, Kooy, R. Frank, Reyniers, Edwin, Hellebrand, Heide, Wanders, Ronald J.A., Kooy, Frank   +13 more
core   +1 more source

Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome. [PDF]

, 2014
Enhancers can regulate the transcription of genes over long genomic distances. This is thought to lead to selection against genomic rearrangements within such regions that may disrupt this functional linkage.
Rinkwitz, S, Bally-Cuif, Laure, Chilamakuri, Chandra S R, Wilson, David I., Ishibashi, M, Rinkwitz, Silke, Wilson, SW, Crollius, H. R., Hawkins, Thomas A., FitzPatrick, David R, Becker, Thomas S, Wilson, Stephen W., Strähle, U., Becker, TS, Rastegar, S., Lenhard, B., Hawkins, TA, Raymond, F. L., Chilamakuri, CS, Hawkins, T. A., Louis, A., Louis, A, Louis, Alexandra, Wilson, D. I., Chilamakuri, Chandra S. R., Hawkins, Thomas A, Ishibashi, Minaka, Crollius, Hugues Roest, Naville, M., Strähle, U, Wilson, S. W., Rastegar, Sepand, Lenhard, Boris, Becker, Thomas S., Straehle, Uwe, Manning, E, Bally-Cuif, L., FitzPatrick, David R., Bengani, H, Manning, E., Rastegar, S, Ferg, M, Roest Crollius, Hugues, Heyningen, V. van, Roest Crollius, H, Ferg, Marco, Bengani, Hemant, Lucy Raymond, F., Lucy Raymond, F, Naville, Magali, Krecsmarik, Monika, FitzPatrick, D. R., Bengani, H., Chilamakuri, C. S. R., Wilson, Stephen W, Ishibashi, M., Naville, M, Wilson, David I, van Heyningen, V, Bally-Cuif, L, Wilson, DI, Rinkwitz, S., Strähle, Uwe, Chilamakuri, Chandra Sekhar Reddy, FitzPatrick, DR, Raymond, F. Lucy, Ferg, M., Krecsmarik, M, Becker, T. S., van Heyningen, Veronica, Lenhard, B, Manning, Elizabeth, Krecsmarik, M.   +72 more
core   +1 more source

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Current concepts in the treatment of hereditary ataxias

Arquivos de Neuro-Psiquiatria, 2016
Hereditary ataxias (HA) represents an extensive group of clinically and genetically heterogeneous neurodegenerative diseases, characterized by progressive ataxia combined with extra-cerebellar and multi-systemic involvements, including peripheral ...
Pedro Braga Neto, José Luiz Pedroso, Sheng-Han Kuo, C. França Marcondes Junior, Hélio Afonso Ghizoni Teive, Orlando Graziani Povoas Barsottini   +5 more
doaj   +1 more source

X-linked mental retardation and epigenetics

Journal of Cellular and Molecular Medicine, 2006
The search for the genetic defects in constitutional diseases has so far been restricted to direct methods for the identification of genetic mutations in the patients’ genome.
G. Froyen, Marijke Bauters, T. Voet, P. Marynen   +3 more
semanticscholar   +1 more source

A Commentary on Diagnostic and follow-up system for X-linked adrenoleukodystrophy: a comprehensive model for ‘treatable’ genetic diseases [PDF]

Journal of Human Genetics, 2010
A Commentary on Diagnostic and follow-up system for X-linked adrenoleukodystrophy: a comprehensive model for ‘treatable’ genetic ...
openaire   +2 more sources

Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort

Background/Objectives: Cystoid macular lesion (CML) is a treatable cause of central vision loss in inherited retinal diseases (IRDs). We aimed to determine the frequency of CML in a large Hungarian IRD cohort and examine associations with causative genes.
Viktoria Szabo, Barbara Asboth, Barbara Besztercei, Andras Vegh, Ditta Zobor, Agnes Takacs, Krisztina Knezy, Zoltan Zsolt Nagy, Balazs Varsanyi, Rita Vamos, Alessandra Sanrocco, Balazs Lesch   +11 more
core   +1 more source