Results 81 to 90 of about 83,341 (293)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Normal Standard TCD/AC Ratio for the Evaluation of Intrauterine Growth Restriction in Singleton Fetuses

Clinical and Experimental Obstetrics & Gynecology
Background: Intrauterine growth restriction is associated with increased fetal mortality rate, and its early detection is important for determining delivery timing and planning neonatal care.
Sung-Hee Yang, Dong-Yeon Lee
doaj   +1 more source

Maternal inflammation at 0.7 gestation in ewes leads to intrauterine growth restriction and impaired glucose metabolism in offspring at 30 d of age [PDF]

, 2019
Fetal programming associated with intrauterine growth restriction (IUGR) leads to lifelong deficits in growth and metabolic function (Hales and Barker, 2013).
Beard, Joslyn K., Beede, Kristin A., Cadaret, Caitlin N., Gibbs, Rachel L., Petersen, Jessica L., Posont, Robert J., Swanson, Rebecca M., Yates, Dustin T.   +7 more
core   +1 more source

Artificial rearing influences the morphology, permeability and redox state of the gastrointestinal tract of low and normal birth weight piglets [PDF]

, 2017
Background: In this study the physiological implications of artificial rearing were investigated. Low (LBW) and normal birth weight (NBW) piglets were compared as they might react differently to stressors caused by artificial rearing.
Casteleyn, Christophe, De Smet, Stefaan, Degroote, Jeroen, Fransen, Erik, Michiels, Joris, Prims, Sara, Van Cruchten, Steven, Van Ginneken, Chris, Vergauwen, Hans, Wang, Wei   +9 more
core   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Blood ferritin levels in pregnant women and prediction of the development of fetal intrauterine growth restriction [PDF]

Journal of Medical Biochemistry, 2011
Intrauterine growth restriction is one of the leading causes of perinatal morbidity and mortality. Prediction of intrauterine growth restriction is one of the priority tasks of perinatal protection. The purpose of this study was to evaluate the levels of
Višnjevac Nemanja, Mladenović-Segedi Ljiljana, Ćurčić Aleksandar, Višnjevac Jovana, Stajić Dragan   +4 more
doaj  

MR imaging–derived oxygen-hemoglobin dissociation curves and fetal-placental oxygen-hemoglobin affinities [PDF]

, 2016
PURPOSE: To generate magnetic resonance (MR) imaging–derived, oxygen-hemoglobin dissociation curves and to map fetal-placental oxygen-hemoglobin affinity in pregnant mice noninvasively by combining blood oxygen level–dependent (BOLD) T2* and oxygen ...
Akselrod-Ballin, Ayelet, Avni, Reut, Biton, Inbal, Cohen, Yonni, Garbow, Joel R, Golani, Ofra, Neeman, Michael   +6 more
core   +2 more sources

Trabecular bone ontogeny of the human talus

The Anatomical Record, EarlyView.
Abstract Studies of trabecular ontogeny may provide insight into the factors that drive healthy bone development. There is a growing understanding of how the juvenile skeleton responds to these influences; however, gaps in our knowledge remain. This study aims to identify ontogenetic trabecular patterns and regional changes during development within ...
Rebecca A. G. Reid, Catriona Davies, Craig Cunningham   +2 more
wiley   +1 more source

Novel DNA methylation profiles associated with key gene regulation and transcription pathways in blood and placenta of growth-restricted neonates [PDF]

, 2014
BB/H012494/1/ Biotechnology and Biological Sciences Research ...
Barg E, Bejamini Y, Chris Mathews, David J Williams, Graham A Hitman, Melissa C Smart, Robert Lowe, Sara L Hillman, Sarah Finer, Smyth GK, Vardhman K Rakyan   +10 more
core   +3 more sources

Evaluation of IHH, PTCH1, and SMO protein immunohistochemistry in the human mandibular condyle at fetal stages from 30 to 80 mm greatest length

The Anatomical Record, EarlyView.
Abstract This study evaluated the morphogenesis of the temporomandibular joint (TMJ) in human fetuses during the third month of gestation through the analysis of immunohistochemistry for the proteins Indian Hedgehog (IHH), Patched‐1 (PTCH1), and Smoothened (SMO).
Filipe Santos da Silva, Carolina de Oliveira Gigek, Andreia Fabiana Do Vale Franco, Amanda Alves Ribeiro Massoni, José Ramon Mérida‐Velasco, Luís Otávio Carvalho de Moraes   +5 more
wiley   +1 more source