Results 41 to 50 of about 231,455 (290)

The genetic content of chromosomal inversions across a wide latitudinal gradient [PDF]

, 2012
There is increasing evidence regarding the role of chromosomal inversions in relevant biological processes such as local adaptation and speciation. A classic example of the adaptive role of chromosomal polymorphisms is given by the clines of inversion ...
Simões, Pedro, Calabria Garcia, Gemma, Marta Pascual (88566), Balanyà Joan, Picão Osório, J., Balanyà i Maymó, Joan, Simões Pedro, João Picão-Osório, Pedro Simões (88565), Pascual Berniola, Marta, Gemma Calabria, Marta Pascual, Gemma Calabria (109704), Pascual Marta, João Picão-Osório (109707), Pedro Simões, Calabria Gemma, Picão-Osório João, Joan Balanyà, Joan Balanyà (109709)   +19 more
core   +2 more sources

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source

Microbiome‐blood–brain barrier interactions in aging — mechanisms and therapeutic potential

FEBS Letters, EarlyView.
Aging reshapes the gut microbiome (↓SCFA‐producing commensals; ↑pro‐inflammatory outputs), shifting circulating metabolites (↓SCFAs; ↑LPS, ↑TMAO, ↑PAA) that act at the BBB to increase nonspecific transcytosis, alter transport, and promote astrocyte reactivity, heightening brain vulnerability.
Daniel Cuervo‐Zanatta, Hari Baskar Balasubramanian, Amir Pasokh, Marietta Zille   +3 more
wiley   +1 more source

Antenatal screening for chromosomal and genetic abnormalities:Cost effectiveness and outcome [PDF]

Journal of Analytical Research in Clinical Medicine, 2018
Introduction: As an essential part of antenatal care, pregnant women of all ages should be offered screening for chromosomal abnormalities before 20 weeks of gestation.
Simin Tagavi, Hossein Alikhah, Sharareh Barband, Fereshteh Farhadi, Mohammad Naghavi-Behzad, Saeed Jodi-Khajeh, Sahar Mohammadi, Reza Piri   +7 more
doaj   +1 more source

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source

Chromosomal abnormalities and psychosis [PDF]

British Journal of Psychiatry, 2006
SummaryThe search for susceptibility genes for schizophrenia and severe affective disorder has been enhanced by the study of cytogenetic abnormalities that disrupt genes directly. One such gene is DISCI and there is increasing evidence that it may be an important modulator of risk of psychosis.
Muir, Walter J., Pickard, Benjamin S., Blackwood, Douglas H.R.   +2 more
openaire   +4 more sources

Aneuploidy and DNA Fragmentation in Sperm of Carriers of a Constitutional Chromosomal Abnormality

, 2011
Among various causes responsible for infertility, it has been admitted for a long time that male infertility can be due to impaired spermatogenesis and/or balanced structural chromosomal abnormalities.
V. Amice, F. Morel, A. Basinko, N. Gueganic, A. Perrin, N. Douet-Guilbert, M.-J. Le Bris, M. De Braekeleer   +7 more
core   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

PCR-based karyotyping of Anopheles gambiae inversion 2Rj identifies the BAMAKO chromosomal form. [PDF]

, 2007
BACKGROUND: The malaria vector Anopheles gambiae is polymorphic for chromosomal inversions on the right arm of chromosome 2 that segregate nonrandomly between assortatively mating populations in West Africa.
Conway David J, Nwakanma, Davis, Simard Frédéric, Dia Ibrahima, Kern Marcia, Fofana Abdrahamane, Besansky Nora J, Caputo Beniamino, Lassana Konate, Fofana, Abdrahamane, Traoré, S., Petrarca, V., Musa Jawara, Ibrahima Dia, Simard, Frédéric, Dia, Ibrahima, Pombi Marco, Besansky, Nora J, Kern, Marcia, Nora J. Besansky, Traoré, Sékou, Conway, D. J., Mamadou B. Coulibaly, Coulibaly, M. B., Pombi, Marco, Caputo, Beniamino, Torre Alessandra, Nwakanma, D., David J. Conway, Marcia Kern, Conway, David J, Jawara, M., Petrarca, Vincenzo, Coulibaly Mamadou B, della Torre, A., Jawara, Musa, Pombi, M., Konaté, L., Fofana, A., Sekou Traore, Abdrahamane Fofana, Kern, M., Nwakanma Davis, Caputo, B., Konate Lassana, Besansky, N. J., Konate, Lassana, Jawara Musa, Dia, I., Coulibaly, Mamadou B, Traoré Sékou, Davis Nwakanma, Petrarca Vincenzo, della Torre, Alessandra, Frédéric Simard   +54 more
core   +1 more source

Transcriptional profiling of circulating extracellular vesicles from prebiopsy prostate cancer patients

Molecular Oncology, EarlyView.
RNA profiling of circulating extracellular vesicles (EVs) from blood samples of men undergoing prostate biopsy identifies transcripts associated with clinically significant prostate cancer. Integrative analysis with public tumor datasets links EV‐derived gene signatures to tumor stage and progression‐free survival, highlighting CASP3, XRCC2, and RIT1 ...
Stefan Werner, Pierre Tennstedt, Randi C. Pose, Christian Müller, Katharina Besler, Svenja Schneegans, Malik Alawi, Marie C. Roesch, Sven Peine, Desiree Bonci, Joanna Budna‐Tukan, Evi Lianidou, Catherine Alix‐Panabières, Derya Tilki, Klaus Pantel   +14 more
wiley   +1 more source