Results 31 to 40 of about 85,482 (241)

Presenilinas, Apo E y enfermedad de Alzheimer

Revista Cubana de Investigaciones Biomédicas, 2002
Se hizo una revisión sobre la identificación y el aislamiento de los genes que codifican para la presenilina 1 y 2 (cromosoma 14 y 21 respectivamente), así como la detección de mutaciones, lo que constituye uno de los logros de la estrategia genética ...
Noel Padrón Pérez, Silvia Gra Menéndez, Juan de Jesús Llibre Rodríguez   +2 more
doaj  

Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes [PDF]

, 2011
The human X and Y chromosomes evolved from an ordinary pair of autosomes during the past 200–300 million years[superscript 1, 2, 3]. The human MSY (male-specific region of Y chromosome) retains only three percent of the ancestral autosomes’ genes owing ...
Tina Graves, Cree, Andrew, Villasana, Donna, Muzny, Donna M., Warren2, Wesley C., Graves, Tina, Christian J. Buhay, Donna Villasana, Richard A. Gibbs, Dugan, Shannon, Rozen, Steve, Gibbs, Richard A., Cho, Ting-Jan, Yan Ding, Wilson, Richard K., Jennifer F. Hughes, Helen Skaletsky, Steve Rozen, Wang, Qiaoyan, David C. Page, Shannon Dugan, Nazareth, Lynne V., Veizer, Joelle, Page, David C, Holland Kotkiewicz, Wesley C. Warren, Joelle Veizer, Holder, Michael, Donna M. Muzny, Colin Kremitzki, Brown, Laura G., Courtney, Laura, Fulton, Robert S., Richard K. Wilson, Buhay, Christian J., Robert S. Fulton, Ding, Yan, Andrew Cree, Pyntikova, Tatyana, Qiaoyan Wang, Hughes, Jennifer F., Michael Holder, Kremitzki, Colin, Skaletsky, Helen, Hua Shen, Ting-Jan Cho, Natalia Koutseva, Lynne V. Nazareth, Laura G. Brown, Laura Courtney, Koutseva, Natalia, Shen, Hua, Kotkiewicz, Holland, Tatyana Pyntikova   +53 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

Nonrandom distribution of metaphase AgNOR staining patterns on human acrocentric chromosomes.

, 2000
The metaphase nucleolar organizer regions (NORs) contain ribosomal genes associated with proteins such as upstream binding factor (UBF) and RNA polymerase I (RPI). These genes are clustered in 10 loci of the human acrocentric chromosomes (13, 14, 15, 21,
O'Donohue, M. F., Héliot, L., Héliot, Laurent, Klein, Christophe, Mongelard, Fabien, Klein, C., Chassery, Jean-Marc, O'Donohue, Marie-Françoise, Robert-Nicoud, Michel, Usson, Yves, Robert-Nicoud, M.   +10 more
core   +1 more source

The value of avian genomics to the conservation of wildlife [PDF]

, 2009
Background: Genomic studies in non-domestic avian models, such as the California condor and white-throated sparrow, can lead to more comprehensive conservation plans and provide clues for understanding mechanisms affecting genetic variation, adaptation ...
Hickenbotham, Matthew T, Mardis, Elaine R., Dandekar, Sugandha, Modi, William S, Modi, William S., Jones, Kenneth C., Papp, Jeanette C, Mardis, Elaine R, Glasscock, Jarret, Houck, Marlys L, Green, Eric D, Chemnick, Leona G., Otten, Christie A, Stremel Mork, Emily M., Green, Eric D., Chemnick, Leona G, Stremel Mork, Emily M, Papp, Jeanette C., Romanov, Michael N, Magrini, Vincent, Ryder, Oliver A, Hickenbotham, Matthew T., NISC Comparative Sequencing Program,, Otten, Christie A., Tuttle, Elaina M., Tuttle, Elaina M, Houck, Marlys L., Korody, Marisa L, Renner, Tanya, Jones, Kenneth C, Da, Yang, McGrath, Sean, Korody, Marisa L., Ryder, Oliver A.   +33 more
core   +1 more source

Heterozygous loss‐of‐function alleles associate the conserved 3′‐5′ exoribonuclease EXOSC10 with hypersensitivity to the anticancer drug 5‐fluorouracil

Molecular Oncology, EarlyView.
EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain, Yann Le Page, Frédéric Percevault, Emmanuelle Becker, Luc Negroni, Almudena Fernandez, Marta Cantero, Diego Muñoz‐Santos, Lluís Montoliu, Cyrille Garnier, Michael Primig   +10 more
wiley   +1 more source

Murine Model System for EBV-related Diseases [PDF]

, 2007
Epstein-Barr Virus (EBV) is involved in several human malignancies via its latent gene products, which interact with cellular proteins and mimic discrete functions of cellular signalling pathways.
Zychlinska, Magdalena, Zychlinska, M.
core  

Patterns of selective constraints in noncoding DNA of rice [PDF]

, 2007
Background Several studies have investigated the relationships between selective constraints in introns and their length, GC content and location within genes. To date, however, no such investigation has been done in plants.
Peter D Keightley, Fan Longjiang, Wang, Y, Wang Yu, Guo, X, Fan, L, Longjiang Fan, Keightley Peter D, Keightley, Peter, Yu Wang, Guo Xingyi, Xingyi Guo   +11 more
core   +1 more source

Clinical performance of the urine‐based TERT promoter AbsoluteQ Digital PCR for non‐invasive detection of bladder cancer

Molecular Oncology, EarlyView.
A urine‐based digital PCR assay targeting two hotspot TERT promoter variants detected bladder cancer with high sensitivity and no false positives in this case–control cohort. The streamlined AbsoluteQ workflow outperformed Sanger sequencing and supports non‐invasive molecular testing for bladder cancer detection.
Anna Nykel, Izabela Kubiak, Lena Rutkowska, Żaneta Kasprzyk, Łukasz Kępczyński, Michał Bednarek, Dariusz Sobieraj, Jacek Wilkosz, Piotr Kania, Adam Jędrzejczyk, Bogdan Kałużewski, Agnieszka Gach, Tadeusz Kałużewski   +12 more
wiley   +1 more source

A new robust diagnostic polymerase chain reaction for determining the mating status of female Anopheles gambiae mosquitoes. [PDF]

, 2007
The principal malaria vector in Africa, Anopheles gambiae, contains two pairs of autosomes and one pair of sex chromosomes. The Y chromosome is only associated with males and other Y chromosome-specific DNA sequences, which are transferred to women ...
Lanzaro, Gregory C, Horton, A., Knols, B.G.J., Ng'habi, Kija R, Lanzaro, G.C., Ng'habi, K.R., Knols, Bart G J, Horton, Ashley   +7 more
core