Results 201 to 210 of about 49,640 (282)

Microcephaly, seizures and developmental delay caused by two novel mutations in the <i>PNKP</i> gene: a case report. [PDF]

Transl Pediatr
Liu M, Huang DP, Wang ML, Zhao DJ, Feng J, Zhu FM, Zhang ZL, Chen XQ.   +7 more
europepmc   +1 more source

A Case Report of Shwachman‐Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
We report a neonatal SDS patient with earliest onset of symptoms. The c.2935C>T and c.3149_3151delCAC compound heterozygous variants reported in this study expand the mutational spectrum of this disease. ABSTRACT Objective This investigation reports on a Shwachman‐Diamond syndrome (SDS) case arising from compound heterozygous genetic variations ...
Xiaoying Zhou, Hongxin Li, Xinyi Yang, Chunli Wang, Wenting Zhang   +4 more
wiley   +1 more source

Ten years of Zika in Brazil: achievements, challenges and perspectives. [PDF]

Virol J
Yuji Sasazaki F, Tudella GCN, de Oliveira-Filho EF, Lopes TRR, Carmo RF, Flores EF, Silva Júnior JVJ.   +6 more
europepmc   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, Volume 46, Issue 7, Page 1122-1129, June 2026.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Sequence and structural alignments reveal insights into ANKLE2 evolution and function

Protein Science, Volume 35, Issue 6, June 2026.
Abstract ANKLE2 is an enigmatic protein with emerging roles in cell division, development, and virus replication. While ANKLE2 orthologs are present in all animals, its domain composition has evolved over time. ANKLE2's two namesake domains, the ankyrin repeat and LEM domains (named for LAP2, Emerin, and MAN1), have clear and defined roles; however ...
Adam T. Fishburn, Cole J. Florio, Chase L. S. Skawinski, Sydney S. Becker, Ethan Holleman, Avery E. Robertson, Rees Sitchon, Frédéric Chédin, Priya S. Shah   +8 more
wiley   +1 more source

Orchestrating mitochondrial protein import: The emerging role of DYRK1A in health and disease

Protein Science, Volume 35, Issue 6, June 2026.
Abstract The translocase of the outer mitochondrial membrane (TOM complex) serves as the central entry gate for more than 1000 nuclear‐encoded precursor proteins imported into the organelle. Recently, the human import receptor TOM70 has been identified as a substrate of the serine/threonine kinase DYRK1A.
Sahana Shankar, Chris Meisinger
wiley   +1 more source

Expanding the Phenotypic Spectrum of Anauxetic Dysplasia Type 3: Reporting an Iranian Family With Unique Systemic Features and <i>NEPRO</i> Gene Variant. [PDF]

Clin Case Rep
Kian MM, Sheikholeslami S, Feizabadi MK, Roshanaeizadeh AM, Haghi A, Chaleshtori ARS, Moazzeni HR.   +6 more
europepmc   +1 more source

Public Health Implications of High Cytomegalovirus Seroprevalence in Pregnancy: A Cross‐Sectional Study in Western Uganda

Public Health Challenges, Volume 5, Issue 2, June 2026.
Among immediate postpartum women in western Uganda, maternal CMV seroprevalence was high (81.2%) and was predominantly chronic or non‐primary infection. Older age, rural residence, lower education, and prior spontaneous abortion were associated with seropositivity, supporting targeted maternal CMV education and evaluation of context‐appropriate ...
Bashir Mohamed Naima, Marie Pascaline Sabine Ishimwe, Theodore Nteziyaremye, Jean de Dieu Rukamba, Musa Kasujja, Theoneste Hakizimana   +5 more
wiley   +1 more source

Functional Characterization of Loss of <i>RNF43</i> Reveals Neuronal Defects in a <i>Caenorhabditis elegans</i> Model. [PDF]

Int J Mol Sci
Sonmez K, Güzel S, Kazan HH, Ekim B, Kaya C, Turkyilmaz Z, Karabulut R, Ergun MA.   +7 more
europepmc   +1 more source

Changing trends in prenatal screening and treatment of cytomegalovirus infection in France: 7‐year national cohort study (2017–2023)

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 6, Page 756-763, June 2026.
ABSTRACT Objectives Cytomegalovirus (CMV) is the leading cause of congenital infectious neurosensory impairment. We aimed to present national epidemiological data on maternal CMV infection during pregnancy in France, focusing in particular on primary infection in the periconceptional period or first trimester, and to assess the impact of changes in ...
P. Coste‐Mazeau, E. Ribot, S. Hantz, Y. Ville, M. Leruez‐Ville, S. Alain, the French Congenital Infection database group, Maeva Anciaux, Laurent Andreoletti, Julie Arata‐Bardet, Carine Arlicot, Dominique Astruc, Jocelyne Attia, Marie‐Stéphanie Aubelle, Christelle Auvray, Bassel Bachour, Sonanda Bailleux, Nathalie Banaszkiewicz, Adeline Baron, Audrey Baudesson de Chanville, Manon Baudry, Agnès Beby‐Defaux, Alexandra Benachi, Melinda Benard, Yasmina Benmalek, Guillaume Benoist, Géraldine Benoit, Clotilde Bertrand, Florence Biquard, Delphine Body‐Bechou, Emilie Bouissou, Brahim Boumahni, Thomas Bourlet, Elise Bouthry, David Boutolleau, Marie Pierre Brechard, Caroline Bressollette, Olivier Brissaud, Marine Butin, Anne‐Sophie Cabaret‐Dufour, Romain Cahierc, Sandrine Caillot‐Vaudoyer, Odile Camard, Margaux Canaguier, Isabelle Cannavo, Clément Castella, Julie Cattin, Caroline Chessa, Marie‐Thérèse Cheve, Marianne Coicaud, Laurence Contin, Marianne Coste‐Burel, Sophie Couderc, Anne‐Marie Darras, Amélie Delabaere, Delphine Delayer, Mathilde Demeyere, Joelle Dendale, Anny Dewilde, Murielle Dobrzynski, Chloé Dole, Chloé Epiard, Véronique Equy, Laurence Fagour, Frederic Faibis, Benoit Fetiveau, Axel Fichez, Christelle Follet‐Bouhamed, Justine Formet, Vincent Foulongne, Loriane Franchinard, Emilie Frobert, Denis Gallot, Patricia Garcia, Isabelle Garrigue, Catherine Gaudy‐Graffin, Stéphanie Gouarin, Ann‐Claire Gourinat, Veronique Grezard, Michele Gueneret‐Bru, Jérôme Guinard, Frédérique Hay, Sophie Henault, Céline Homatter, Nadira Houhou, Cyril Huissoud, Véronique Jacomo, Gaelle Jambon, Eugénie Jolivet, Saodat Karimova, Blandine Keller, Sophie Ketterer‐Martinon, Fedia Khlif Masmoudi, François Kieffer, Bérengère Kireche, Anne‐Sophie L'Honneur, Jean‐Marc Labaune, Imad Labbassi, Marie‐Edith Lafon, Gisèle Lagathu, Stéphane Lastere, Hélène Laurichesse, Mouna Lazrek, Gwenaelle Le Bouar, Camille Le Pors, Claudine Le Vaillant, René Lebeaupin, Elodie Lecorps, Quentin Lepiller, Justine Lerat, Marine Letrecher, Nicolas Leveque, Emmanuelle Levine, Sophie Levrier, David Leyssene, Julien Lupo, Nadia Mahjoub, Anne‐Marie Maillotte, Sandrine Marioli, Julien Marlet, Stéphanie Marque Juillet, Manon Marquet, Charlotte Masias, Marco Millones Gonzales, Philippe Minodier, Nicolas Mottet, Eve Mousty, Sébastien Moutton, Anca Moza, Fatiha Najioullah, Anne‐Laure Nerre, Marie‐France Olieric, Isabelle Parent, Anne Paris, Christophe Pasquier, Estelle Perdriolle‐Galet, Franck Perrotin, Delphine Pesenti, Jean‐Charles Picaud, Olivier Picone, Sylvie Pillet, Léa Pilorge, Didier Pinquier, Veronique Poirier‐Cartron, Lucie Poisson, Perrine Prier, Catherine Queiros‐Da‐Silva, Thibaud Quibel, Harisoa Ramaholimihaso, Fabienne Raskin, Christel Regagnon, Mathilde Roffi, Thierry Rousseau, Anne‐Hélène Saliou, Adèle Schiby, Nathalie Schnepf, Christine Segard, Anaïs Soares, Morgane Solis, Robin Stephan, Natacha Teissier, Cyrielle Thonnon, Cynthia Trastour, Joelle Troussier, Anne Sylvie Valat, Christelle Vauloup‐Fellous, Véronique Venard, Valérie Vequeau‐Goua, Laura Verdurme, Mathilde Vermont, Marie Gabrielle Vigue, Marie Vincienne, Vladimir Vladimirov, Jean‐Baptiste Vuillemenot, Anne Sophie Weingertner, Eric Welter, Christine Zandotti   +176 more
wiley   +1 more source