Results 121 to 130 of about 408,842 (307)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Biogenic synthesis of nascent and nitrogen doped carbon dots from Cordia dichotoma G. Forst: Morphological, optical and therapeutic insights for HepG2 cancer cell line therapy

Next Materials
This study explores the green synthesis of carbon dots (CDs) from Cordia dichotoma and Nitrogen doped carbon dots (NCDs) using ethylene di-amine as a nitrogen source.
Megha B. Abbigeri, Bothe Thokchom, Akshata Choudhari Padti, Sapam Riches Singh, Santosh Mallikarjun Bhavi, Sudheendra Rao Kulkarni, Shalini Moses, U. Nagachandu, S. Yashaswini., A.L. Sushma, Shivanand S. Bhat, B.P. Harini, Shyam kumar Vootla, Adarsh Hanamanth Biradar, Ramesh Babu Yarajarla   +14 more
doaj   +1 more source

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

Neurogliogenesis and visual system development in "Drosophila" : genetic/genomic analysis of the "Glial cells missing" and "Egghead" genes [PDF]

, 2005
Complex nervous systems are made up by two major cell types, neuronal and glial cell types. A general observation that has been made by lineage analysis of neurogliogenesis in vertebrates and invertebrates is that neurons and glia often share common ...
Fan, Yun
core   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Syzygium malaccense leaf extract-mediated silver nanoparticles: synthesis, characterization, and biomedical evaluation in Caenorhabditis elegans and lung cancer cell line

Green Chemistry Letters and Reviews
The study explores the green synthesis and characterization of silver nanoparticles using Syzygium malaccense (L.) Merr. & L. M. Perry leaf extract (SM-AgNPs).
Santosh Mallikarjun Bhavi, Bothe Thokchom, Sapam Riches Singh, Sukesh Kumar Bajire, Rajesh P. Shastry, B. S. Srinath, Shivanand S. Bhat, Kotresha Dupadahalli, Chandramohan Govindasamy, Swati Ravi Chalekar, B. P. Harini, Ramesh Babu Yarajarla   +11 more
doaj   +1 more source

Drosophila embryos as model systems for monitoring bacterial infection in real time [PDF]

, 2009
Drosophila embryos are well studied developmental microcosms that have been used extensively as models for early development and more recently wound repair. Here we extend this work by looking at embryos as model systems for following bacterial infection
Isabella Vlisidou, Dowling, Andrea J., Wood, W, Vlisidou, I., Evans, IR, Wood, Will, ffrench-Constant, R.H., Dowling, A.J., Will Wood, Vlisidou, Isabella, Richard H ffrench-Constant, Dowling, Andrea J, Andrea J Dowling, Waterfield Nicholas, Vlisidou, I, Nicholas Waterfield, ffrench-Constant, Richard H., Waterfield, N, ffrench-Constant Richard H., Wood, William, Wood, W. (Will), Evans, I.R., ffrench-Constant, Richard, Wood, W., Vlisidou Isabella, Waterfield, Nicholas R., Dowling Andrea J., Wood Will, Evans, Iwan R., Waterfield, Nicholas, ffrench-Constant, Richard H, Dowling, AJ, Dowling, A J, Iwan R Evans, Evans, Iwan R, Evans Iwan R., Waterfield, N.   +36 more
core   +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

Citrus aurantium honey‐mediated gut homeostasis and anti‐inflammation via Thorl/Nprl2‐TORC1 signaling: Network pharmacology and Drosophila validation

Animal Models and Experimental Medicine, EarlyView.
The study employed a four‐tiered strategy: (1) UHPLC‐FTMS profiling of Citrus aurantium honey to characterize its chemical composition; (2) network pharmacology analysis integrating target prediction, protein–protein interaction networks, and KEGG pathway enrichment to identify the Thor1/Nprl2‐TORC1 axis as a key mechanistic pathway; (3) in vitro ...
Wenqi Wan, Ruiguang Huang, Shuqiong Cao, Luxia Pan, Wenkai Zhang, Wujun Jiang, Zhiyong Liu   +6 more
wiley   +1 more source