Results 221 to 230 of about 88,636 (324)

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

The Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney, Vincent Marcangeli, Krystel Desjardins, Shima Taherkhani, Gilles Gouspillou   +4 more
wiley   +1 more source

Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders. [PDF]

Clin Genet
Di Pasquale G, Valsecchi C, Smylie GM, Salpietro V, Zuccotti GV, Delvecchio M, Mameli C.   +6 more
europepmc   +1 more source

Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil.

MMWR. Morbidity and mortality weekly report, 2016
V. van der Linden, A. Pessoa, W. Dobyns, A. J. Barkovich, Hélio van der Linden Júnior, Epitácio Leite Rolim Filho, Erlane Marques Ribeiro, Mariana de Carvalho Leal, Pablo Picasso de Araújo Coimbra, Maria de Fátima Viana Vasco Aragão, I. Verçosa, C. Ventura, R. Ramos, Danielle Di Cavalcanti Sousa Cruz, Marli Tenório Cordeiro, V. Mota, Mary M Dott, Christina L. Hillard, Cynthia A. Moore   +18 more
semanticscholar   +1 more source

Preliminary Report of Microcephaly Potentially Associated with Zika Virus Infection During Pregnancy — Colombia, January–November 2016 [PDF]

, 2016
Esther Liliana Cuevas, Van T. Tong, Nathaly Rozo, Diana Valencia, Óscar Pacheco, Suzanne M. Gilboa, Marcela Mercado, Christina M. Renquist, Maritza González, Elizabeth C. Ailes, Carolina Duarte, Valerie Godoshian, Christina L. Sancken, Angélica María Rico Turca, Dinorah L. Calles, Martha S. Ayala, Paula Morgan, Erika Natalia Tolosa Perez, Hernan Quijada Bonilla, Ruben Caceres Gomez, Ana Carolina Estupiñán, María Luz Gunturiz Albarracin, Dana Meaney‐Delman, Denise J. Jamieson, Margaret A. Honein, Martha Lucía Ospina Martínez   +25 more
openalex   +1 more source

Birth prevalence, clinical sequelae, and management of congenital cytomegalovirus infections in Australia, 1999–2023: a national prospective study

Medical Journal of Australia, EarlyView.
Abstract Objectives To investigate the birth prevalence, clinical manifestations, and management of congenital cytomegalovirus (CMV) infections in Australia, 1999–2023. Study design Longitudinal observational study; analysis of prospectively collected Australian Paediatric Surveillance Unit (APSU) data. Setting, participants Australia, 1 January 1999 –
Ece Egilmezer, Suzy M Teutsch, Carlos Nunez, Stuart T Hamilton, Adam W Bartlett, Pamela Palasanthiran, Elizabeth J Elliott, William D Rawlinson   +7 more
wiley   +1 more source

Case Report: Compound heterozygous <i>CEP152</i> c.3346-5T>C variant and chr15 deletion causing recurrent MCPH-SCKS in a Chinese pregnant woman across two consecutive pregnancies. [PDF]

Front Genet
Zhang T, Yuan H, Shi X, He Y, Pan H, Zhong Y, Zhang J, Yang Z, Ke Y, Chen Y, Zhang F.   +10 more
europepmc   +1 more source

Successful Management of Two Consecutive Pregnancies With Maternal–Fetal Phenylketonuria: Lessons From Clinical Practice

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase (PAH), leading to the accumulation of phenylalanine (Phe) and an increased risk of developmental disorders. Treatment involves a Phe‐restricted diet, amino acid supplements, and for a subset of patients, a tetrahydrobiopterin (BH4 ...
Per Lundkvist, Karin Blom Malmberg, Linda Lindström, Andreas Kindmark   +3 more
wiley   +1 more source

Neurogenetic Disorders with Hearing Loss: Mechanisms, Classifications, and Emerging Insights. [PDF]

Curr Neurol Neurosci Rep
Owrang D, Vona B.
europepmc   +1 more source

Microcephaly caused by congenital Zika virus infection and viral detection in maternal urine during pregnancy [PDF]

, 2018
Vanessa Couras Regadas, Márcio de Castro e Silva, Lucas Giansante Abud, Luiz Mario Pereira Lopes Labadessa, Rafael Gouvêa Gomes de Oliveira, Cecília Hissae Miyake, Rodolfo Mendes Queiroz   +6 more
openalex   +1 more source

The Clinical Significance of Fetal Intra‐Abdominal Umbilical Vein Varix

Journal of Ultrasound in Medicine, Volume 45, Issue 1, Page 181-192, January 2026.
Objectives To clarify the clinical significance and optimal management of fetal intra‐abdominal umbilical vein varix (FIUVV). Methods A retrospective study comparing composite asphyxia‐related adverse outcomes including stillbirth, cesarean delivery due to non‐reassuring fetal heart rate (CD NRFHR), Apgar <7, Cord pH <7, neonatal intensive care unit ...
Keren Zloto, Ariella Wiener, Natalie Bibar, Raanan Meyer, Abeer Massarwa, Michal Fishel Bartal, Alina Weissmann‐Brenner, Eran Kassif, Tal Weissbach   +8 more
wiley   +1 more source