Results 141 to 150 of about 363,528 (359)

Single-cell analysis of cardiogenesis reveals basis for organ-level developmental defects. [PDF]

, 2019
Organogenesis involves integration of diverse cell types; dysregulation of cell-type-specific gene networks results in birth defects, which affect 5% of live births.
de Soysa, T Yvanka, Del Sol, Antonio, Gifford, Casey A, Huang, Yu, Okawa, Satoshi, Ranade, Sanjeev S, Ravichandran, Srikanth, Salunga, Hazel T, Schricker, Amelia, Srivastava, Deepak   +9 more
core  

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source

Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy

Human Mutation, Volume 43, Issue 12, Page 1970-1978, December 2022., 2022
Abstract Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphorylation (OXPHOS) defects. COX11 encodes a copper chaperone that participates in the assembly of complex IV and has not been previously linked to human disease. In a previous study, we identified that COX11 knockdown
Rocio Rius, Neal K. Bennett, Kaustuv Bhattacharya, Lisa G. Riley, Zafer Yüksel, Luke E. Formosa, Alison G. Compton, Russell C. Dale, Mark J. Cowley, Velimir Gayevskiy, Saeed M. Al Tala, Abdulrahman A. Almehery, Michael T. Ryan, David R. Thorburn, Ken Nakamura, John Christodoulou   +15 more
wiley   +1 more source

Congenital anomalies from a physics perspective. The key role of "manufacturing" volatility [PDF]

, 2019
Genetic and environmental factors are traditionally seen as the sole causes of congenital anomalies. In this paper we introduce a third possible cause, namely random "manufacturing" discrepancies with respect to ``design'' values. A clear way to demonstrate the existence of this component is to ``shut'' the two others and to see whether or not there is
arxiv   +1 more source

Sudden unexpected death in children with congenital heart defects.

European Heart Journal, 2016
AIMS Congenital heart defects (CHDs) are the most common birth defects and are an important cause of death in children. The fear of sudden unexpected death has led to restrictions of physical activity and competitive sports.
J. Jortveit, L. Eskedal, A. Hirth, T. Fomina, G. Dohlen, P. Hagemo, G. Tell, S. Birkeland, N. Øyen, H. Holmstrøm   +9 more
semanticscholar   +1 more source

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott, Olivia K. Wenger, Matthew Adams, Emma L. Baple, Andew Crosby, Joseph Leslie   +5 more
wiley   +1 more source

Mutation update for the ACTN2 gene

Human Mutation, Volume 43, Issue 12, Page 1745-1756, December 2022., 2022
Abstract ACTN2 encodes alpha‐actinin‐2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z‐disk, functions as a link between the anti‐parallel actin filaments. This important structural protein also binds N‐terminal titins, and thus contributes to sarcomere stability.
Johanna Ranta‐aho, Montse Olive, Marie Vandroux, Giorgia Roticiani, Cristina Dominguez, Mridul Johari, Annalaura Torella, Johann Böhm, Janina Turon, Vincenzo Nigro, Peter Hackman, Jocelyn Laporte, Bjarne Udd, Marco Savarese   +13 more
wiley   +1 more source

The Influence Of Maternal Infections On Congenital Heart Defect [PDF]

Congenital heart defects (CHDs) contribute significantly to heightened infant mortality rates. This review explores the intricate link between maternal infections and CHDs, emphasizing diverse factors influencing fetal development, such as bacterial ...
Dhanya M S, Dr. D Anandhi, Dr. Dinesh Roy D, Dr. Reba Babu Alex, Dr. S Karthick, Mr. Bobby Joseph, Mr. Renjith K R, Ms. Asha Mathew, Ms. Aswathi Rajan, Ms. Athira B P, Ms. Keerthi K Lash, Shaiju B, Shaiju B   +11 more
core   +3 more sources

Prenatal diagnosis of congenital heart defects: accuracy and discrepancies in a multicenter cohort

Ultrasound in Obstetrics and Gynecology, 2016
To examine the accuracy of fetal echocardiography in diagnosing congenital heart disease (CHD) at the fetal medicine units of three tertiary care centers.
C. Velzen, S. Clur, M. Rijlaarsdam, E. Pajkrt, C. Bax, J. Hruda, C. D. Groot, Nico A. Blom, Nico A. Blom, M. Haak   +9 more
semanticscholar   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source