Results 181 to 190 of about 283,339 (312)

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Mitophagy Activation via the YAP/Parkin Pathway Underlies the Neuroprotective Action of Tetramethylpyrazine in Cerebral Ischemia/Reperfusion Injury. [PDF]

Biomolecules
Xu L, Wang M, Feng Y, Wang S, Qian Y, Jiang W, Xu J, Fang Y, Zhang Y, Chu L.   +9 more
europepmc   +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

O-GlcNAcylation of IGF2BP2 promotes angiogenesis after ischemic stroke by stabilizing PPP2CA in an m6A-dependent manner : O-GlcNAcylation of IGF2BP2 alleviates ischemic brain injury. [PDF]

J Transl Med
Sun S, Chen X, Deng Y, Tao M, Zhu Y.
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

<i>IGF2BP3</i>-mediated stabilization of <i>RHOA</i> mRNA promotes osteosarcoma proliferation via Hippo signaling. [PDF]

Transl Cancer Res
Wu J, Xia J, Tao Y, Weng Y.
europepmc   +1 more source

Implementing Indigenous Data Sovereignty in Australia: A Five‐Phase Framework for Indigenous Data Governance

Australian Journal of Social Issues, EarlyView.
ABSTRACT This article presents the development of a five‐phase Indigenous Data Governance (IDGov) Framework in Australia, focusing on partnerships between the Aboriginal Community Controlled Health Organisation (ACCHO) sector and non‐Indigenous health entities.
Jacob Prehn, Michael A. Guerzoni, Maggie Walter, Gawaian Bodkin‐Andrews, Bobby Maher   +4 more
wiley   +1 more source

Micropatterning transcriptionally and phenotypically reprograms endothelial cells. [PDF]

Acta Biomater
Josic Dominovic P, Fallon ME, Pang J, Alese TT, Le HH, Anderson DEJ, McCarty OJT, Barnes AP, Hinds MT.   +8 more
europepmc   +1 more source

NUAK2 Inhibition Enhances Macromolecular Drug Delivery in a 3D Fibrotic Model of the Pancreatic Tumor Microenvironment

Advanced NanoBiomed Research, EarlyView.
Using a 3D cell culture model of the fibrotic barrier in pancreatic cancer, this work shows that inhibiting NUAK2 kinase in pancreatic stellate cells enhances macromolecular drug delivery. Mechanistically, NUAK2 inhibition disrupted actin stress fiber assembly to downregulate collagen I expression, thus enhancing macromolecular permeability.
Misaki Nakamura, Hiroyoshi Y. Tanaka, Mayu Ohira, Haruko Ohta‐Okano, Reika Nakamura, Yu Seno, Saaya Yara, Sakura Fujita, Daichi Shibata, Masaya Yamamoto, Shinichi Toyooka, Kensuke Osada, Horacio Cabral, Atsushi Masamune, Mitsunobu R. Kano   +14 more
wiley   +1 more source

Deficiency of exocyst complex component Exoc5 exacerbates the progression of kidney fibrosis. [PDF]

Exp Mol Med
Lim HJ, Han YK, Noh MR, Park YR, Jang SY, Lipschutz JH, Park KM.   +6 more
europepmc   +1 more source