Results 91 to 100 of about 261,248 (281)

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Pervasiveness of Microprotein Function Amongst Drosophila Small Open Reading Frames (SMORFS)

Cells
Small Open Reading Frames (smORFs) of less than 100 codons remain mostly uncharacterised. About a thousand smORFs per genome encode peptides and microproteins about 70–80 aa long, often containing recognisable protein structures and markers of ...
Ana Isabel Platero, Jose Ignacio Pueyo, Sarah Anne Bishop, Emile Gerard Magny, Juan Pablo Couso   +4 more
doaj   +1 more source

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios, Dimitrios Ntelios, Thomas Zegkos, Despoina Parcharidou, Pavlos Rouskas, Sotirios Katranas, Ioannis Papoulidis, Vlasis Ninios, Antonios Ziakas, Georgios K. Efthimiadis   +9 more
wiley   +1 more source

Using Morphogenic Genes to Improve Recovery and Regeneration of Transgenic Plants

Plants, 2019
Efficient transformation of numerous important crops remains a challenge, due predominantly to our inability to stimulate growth of transgenic cells capable of producing plants.
Bill Gordon-Kamm, Nagesh Sardesai, Maren Arling, Keith Lowe, George Hoerster, Scott Betts, Todd Jones   +6 more
doaj   +1 more source

The labial gene is required to terminate proliferation of identified neuroblasts in postembryonic development of the Drosophila brain [PDF]

, 2012
The developing brain of Drosophila has become a useful model for studying the molecular genetic mechanisms that give rise to the complex neuronal arrays that characterize higher brains in other animals including mammals.
Bello, B. C., Kuert, P. A., Reichert, H.
core   +3 more sources

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Embryogenesis

Abstract Embryogenesis is the process in which a single cell develops into a multi-cellular organism. This process varies widely among different organisms, but some overarching features are conserved. The first stage is fertilization, where a male sperm meets a female ovum and the two cell fuse to form a zygote.
Divya Pandey, Sunny Sharma, Umesh Sharma
  +4 more sources

Cuttlefish Early Development and Behavior Under Future High CO2 Conditions

Frontiers in Physiology, 2019
The oceanic uptake of carbon dioxide (CO2) is increasing and changing the seawater chemistry, a phenomenon known as ocean acidification (OA). Besides the expected physiological impairments, there is an increasing evidence of detrimental OA effects on the
Érica Moura, Marta Pimentel, Catarina P. Santos, Eduardo Sampaio, Eduardo Sampaio, Eduardo Sampaio, Maria Rita Pegado, Vanessa Madeira Lopes, Rui Rosa   +8 more
doaj   +1 more source

Mapping worm embryogenesis [PDF]

Nature Reviews Genetics, 2019
A study in Science describes the generation of a lineage-resolved single-cell transcriptome atlas for Caenorhabditis elegans embryos. This resource provides insight into the transcriptional changes underlying cell fate decisions.
openaire   +2 more sources

Embryonic and post-embryonic utilization and subcellular localization of the nuclear receptor SpSHR2 in the sea urchin [PDF]

, 1998
SpSHR2 (Strongylocentrotus purpuratus steroid hormone receptor 2) is a nuclear receptor, encoded by a maternal RNA in the sea urchin embryo. These maternal SpSHR2 transcripts, which are present in all cells, persist until the blastula stage and then are ...
Flytzanis, Constantin N., Kontrogianni-Konstantopoulos, Aikaterini, Leahy, Patrick S.   +2 more
core