Results 161 to 170 of about 387,028 (358)

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Isolation of secreted proteins from Drosophila ovaries and embryos through in vivo BirA-mediated biotinylation [PDF]

, 2019
Leslie M. Stevens, Yuan Zhang, Yuri Volnov, Geng Chen, David Stein   +4 more
openalex   +1 more source

Targeting and regulatory mechanisms in chromosome-wide gene regulation using Drosophila melanogaster as a model organism [PDF]

, 2010
Tese de mestrado. Biologia (Biologia Molecular e Genética). Universidade de Lisboa, Faculdade de Ciências, 2010O cromossoma 4 de Drosophila melanogaster é muito heterocromático, sendo rico em DNA satélite e DNA de elementos transposáveis. Apesar das suas
Figueiredo, Ana Margarida Adónis, 1986-
core  

Faculty Opinions recommendation of Drosophila Pgc protein inhibits P-TEFb recruitment to chromatin in primordial germ cells.

, 2008
David Ish‐Horowicz
openalex   +2 more sources

Generation of a versatile BiFC ORFeome library for analyzing protein-protein interactions in live Drosophila [PDF]

, 2018
Johannes Bischof, Marilyne Duffraisse, Edy Furger, Leiore Ajuria, Guillaume Giraud, Solene Vanderperre, Rachel Paul, Mikael Björklund, Damien Ahr, Alexis W Ahmed, Lionel Spinelli, Christine Brun, Konrad Basler, Samir Merabet   +13 more
openalex   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Transcription Factor Deformed Wings Is an Atg8a-Interacting Protein That Regulates Autophagy

Cells
LC3 (microtubule-associated protein 1 light chain 3, called Atg8 in yeast and Drosophila) is one of the most well-studied autophagy-related proteins. LC3 controls the selectivity of autophagic degradation by interacting with LIR (LC3-interacting region ...
Marta Kołodziej, Panagiotis Tsapras, Alexander D. Cameron, Ioannis P. Nezis   +3 more
doaj   +1 more source

Differences in the chaperone-like activities of the four main small heat shock proteins of Drosophila melanogaster

, 2006
Geneviève Morrow, John J. Heikkila, Robert M. Tanguay   +2 more
openalex   +1 more source

Drosophila Condensin II subunit Chromosome-associated protein D3 regulates cell fate determination through non-cell-autonomous signaling [PDF]

, 2016
Lindsey R. Klebanow, Emanuela C. Peshel, Andrew Schuster, Kuntal De, Kavitha Sarvepalli, Madeleine E. Lemieux, Jessica J. Lenoir, Adrian W. Moore, Jocelyn A. McDonald, Michelle S. Longworth   +9 more
openalex   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source