Results 51 to 60 of about 54,157 (345)

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Molecular Genetics & Genomic Medicine, 2021
Background Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge.
Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François‐Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stéphanie Moortgat, Geert Mortier, Marie‐Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz   +37 more
doaj   +1 more source

Organizing the interface—Plasma membrane architecture and receptor dynamics in virus‐cell interactions

FEBS Letters, EarlyView.
Plasma membranes contain dynamic nanoscale domains that organize lipids and receptors. Because viruses operate at similar scales, this architecture shapes early infection steps, including attachment, receptor engagement, and entry. Using influenza A virus and HIV‐1 as examples, we highlight how receptor nanoclusters, multivalent glycan interactions ...
Jan Schlegel, Christian Sieben
wiley   +1 more source

Consanguinity and its Effects : The Love That Dare Not Speak Its Surname! [PDF]

Perspectives In Medical Research, 2017
Introduction: Consanguineous marriage means marrying biologically related or blood relatives. Consanguinity is a deeply rooted trend in the South Indian States.
N Sreeja1 , Rupshikha Dutta2
doaj  

Study of the impact of consanguinity on abortion and mortality in the population of Beni Abbes (southwestern Algeria)

Egyptian Journal of Medical Human Genetics, 2019
Background Despite the numerous studies confirming the involvement of consanguinity in health problems, some populations around the world continue to practice this marital behavior.
Said Bachir, Ammaria Aouar
doaj   +1 more source

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 more
wiley   +1 more source

Metastasis on pause: How dormant tumor cells stay hidden within the tumor microenvironment and evade immune surveillance

Molecular Oncology, EarlyView.
Dormant cancer cells can hide in distant organs for years, evading treatment and the immune system. This review highlights how signals from the surrounding tissue and immune environment keep these cells inactive or trigger their reawakening. Understanding these mechanisms may help develop therapies to eliminate or control dormant cells and prevent ...
Kanishka Tiwary, Jose Javier Bravo‐Cordero   +1 more
wiley   +1 more source

Differential regulation of ZFAS1 splice variants by endoplasmic reticulum stress in hepatocyte cell lines

FEBS Open Bio, EarlyView.
ZFAS1 is a lncRNA promoting cell proliferation and migration, exhibiting high expression in various cancers. It is conserved, widely expressed, and produces multiple splice variants with unclear roles. We identified several splice variants in hepatocyte models, and found that inhibiting or suppressing regulators of the unfolded protein response (PERK ...
Sébastien Soubeyrand, Paulina Lau, Ruth McPherson   +2 more
wiley   +1 more source

Consanguinity, complex diseases and congenital disabilities in the Souss population (Southern Morocco): a cross-sectional survey

Egyptian Journal of Medical Human Genetics
Background Several studies showed that the perpetuation of consanguinity increases homozygosity and homogenizes the population's gene pool. This allows the expression of recessive deleterious mutations and increases the prevalence of genetic disorders ...
Noura Dahbi, Abderrazak El khair, Khadija Cheffi, Lamiaa Habibeddine, Jalal Talbi, Abderraouf Hilali, Hicham El ossmani   +6 more
doaj   +1 more source

Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil

Journal of Inborn Errors of Metabolism and Screening, 2015
In this 25-year retrospective study, we analyzed data from 200 medical records concerning diagnosis, consanguinity, and geographic origin from probands with autosomal recessive inborn errors of metabolism in a reference service based in Campinas, Brazil.
Cristiano Guimarães Kozuki, Carlos Eduardo Steiner MD, PhD   +1 more
doaj   +1 more source

The knowledge and the attitude of youth couples on/towards consanguineous marriages in the north of Iran [PDF]

, 2012
Aim: Consanguinity is an important risk factor in genetic diseases and in congenital malformations. This study was done to assess the knowledge and the attitude of youth couples on/towards consanguineous marriages in the north of Iran.
Golalipour, M.J., Keshtkar, A.A., Sedehi, M.   +2 more
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