Results 151 to 160 of about 454,115 (308)

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Single nucleotide polymorphism wars [PDF]

Nature Biotechnology, 1998
openaire   +3 more sources

Vitamin D‐induced mechanisms in cancer prevention and therapy: Recent advances and future opportunities

Animal Models and Experimental Medicine, EarlyView.
Vitamin D, traditionally known to promote calcium and bone health, is being explored for its role in cancer prevention and treatment through its influence on cell proliferation, differentiation, apoptosis, and immune response. The vitamin D receptor (VDR) regulates gene expression and interacts with key signaling pathways such as Wnt/β‐catenin, MAPK ...
D. Prasanth, Pathan Amanulla Khan, Jamal‐E‐Fatima, Trupti Pratik Durgawale, Falak Arjumand Siddique, Sharuk L. Khan, Azmath Farhana, Uttam Prasad Panigrahy, Mohammed Abdul Aziz shahid, Mohammed Sayeed, Md. Faysal   +10 more
wiley   +1 more source

Comment on “Development and Validation of Machine Learning‐Based Marker for Early Detection and Prognosis Stratification of Nonalcoholic Fatty Liver Disease”

Advanced Science, EarlyView.
Hongye Peng, Shaojie Duan
wiley   +1 more source

Buried Treasure? Overlooked and Newly Discovered Evolutionary Contributions to Human Brain Diseases

Annals of Neurology, EarlyView.
Recapitulative schema of different exploratory levels of the evolutionary impact on human neurological diseases. Clinical neuroscience focuses on the mechanisms of brain function, but this approach falls short of insights into how the central nervous system (CNS) evolved, both in health and disease.
Nico J. Diederich, Martin Brüne, John S. Allen, Nicole Bender, Emiliano Bruner, Jean‐Pierre Changeux, Corrado Cali, Olga Dolgova, Anne Grünewald, Geneviève Konopka, Peng Jin, Roger Lemon, Gilberto Levy, Pierre Magistretti, Markus J. Rantala, Kathleen S. Rockland, Roger Sullivan, Annie Swanepoel, Toshiki Uchihara, Katrin Amunts, Christopher G. Goetz   +20 more
wiley   +1 more source

Epstein–Barr Virus, Lower Vitamin D, Low Sun Exposure, and HLA‐DRB1*1501 Risk Variant Share Common Epigenetic Pathways Leading to Multiple Sclerosis Onset

Annals of Neurology, EarlyView.
Objectives Multiple sclerosis (MS) onset risk factors include Epstein–Barr virus (EBV) indices (including host response), lower serum 25‐vitamin D (25(OH)D) levels, low sun exposure, and HLA‐DRB1*1501. The underlying molecular mechanisms are unclear. Here, we examined mediation through differential DNA methylation (DNAm) to better understand possible ...
Steve Simpson‐Yap, Ellen Morwitch, Samuel A. Tanner, Sarah M. Thomson, Alex Eisner, Rod A. Lea, Trevor J. Kilpatrick, Jeannette Lechner‐Scott, Rodney J. Scott, Alexandre Xavier, Vicki E. Maltby, Robyn M. Lucas, Bruce V. Taylor, Brett A. Lidbury, Simon A. Broadley, Ingrid van der Mei, Mehari Woldemariam Merid, Boris Novakovic, Richard Saffery, Anna Karin Hedström, Pernilla Stridh, Tomas Olsson, Maja Jagodic, Lars Alfredsson, Anne‐Louise Ponsonby, for the Ausimmune Investigator Group, Caron Chapman, Alan Coulthard, Keith Dear, Terry Dwyer, Trevor Kilpatrick, Robyn Lucas, Tony McMichael, Anne‐Louise Ponsonby, Bruce Taylor, Patricia Valery, Ingrid van der Mei, David Williams   +37 more
wiley   +1 more source

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Have Distinct Prediagnostic Blood Biochemical Profiles

Annals of Neurology, EarlyView.
Objective Identifying modifiable factors influencing amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) risk is important for prevention. Blood biomarkers, particularly cholesterol, have been associated with neurodegenerative risk, but findings in ALS are inconsistent, and data on FTD are limited.
Christos V. Chalitsios, Jiali Gao, Carol A.C. Coupland, Julia Hippisley Cox, Martin R. Turner, Alexander G. Thompson   +5 more
wiley   +1 more source

Ein neuer Malariawirkstoff hemmt die Proteinsynthese von Plasmodium falciparum

Angewandte Chemie, EarlyView.
Die Verbindung 31 stellt einen vielversprechenden Ansatz für die Entwicklung eines Malariawirkstoffs mit einem starken Wirkungsprofil dar (PfNF54 IC50 ± s.d. = 3,9 ± 0,4 nM). Sie hat einen neuartigen Wirkmechanismus, indem sie an zytosolische Ribosomen‐Untereinheiten bindet und dadurch die Proteinsynthese im Parasiten hemmt.
Patricia Bravo, Eleonora Diamanti, Mostafa M. Hamed, Lorenzo Bizzarri, Natalie Wiedemar, Armin Passecker, Nicolas M. B. Brancucci, Anna Albisetti, Christin Gumpp, Boris Illarionov, Markus Fischer, Matthias Witschel, Tobias Schehl, Hannes Hahne, Pascal Mäser, Matthias Rottmann, Anna K. H. Hirsch   +16 more
wiley   +1 more source

A Novel Antimalarial Agent that Inhibits Protein Synthesis in Plasmodium falciparum

Angewandte Chemie International Edition, EarlyView.
Compound 31 represents a promising avenue for the development as an antimalarial agent with a potent activity profile (PfNF54 IC50 ± s.d. = 3.9 ± 0.4 nM). It has a novel mode of action by binding to cytosolic ribosomal subunits, thereby inhibiting protein synthesis in the parasite.
Patricia Bravo, Eleonora Diamanti, Mostafa M. Hamed, Lorenzo Bizzarri, Natalie Wiedemar, Armin Passecker, Nicolas M. B. Brancucci, Anna Albisetti, Christin Gumpp, Boris Illarionov, Markus Fischer, Matthias Witschel, Tobias Schehl, Hannes Hahne, Pascal Mäser, Matthias Rottmann, Anna K. H. Hirsch   +16 more
wiley   +1 more source

Harnessing genomic prediction in Brassica napus through a nested association mapping population. [PDF]

Plant Genome
Perumal S, Higgins EE, Sra S, Khedikar Y, Moore J, Chaudary R, Haile T, Koh CS, Vail S, Robinson SJ, Horner K, Hope B, Klein-Gebbinck H, Herrmann DT, Navabi K, Sharpe AG, Parkin IAP.   +16 more
europepmc   +1 more source