Results 141 to 150 of about 159,415 (265)

Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder. [PDF]

Genes (Basel), 2021
Indrieri A, Franco B.
europepmc   +1 more source

Charting Endocrine Progenitors Across Species and Organs

Advanced Science, EarlyView.
Endocrine progenitors give rise to the hormone‐producing cells of the pancreas and intestine. Using single‐cell multiomics and proteomics, this study compares these progenitors across species, systems, and organs, mapping the conserved and species‐specific gene regulatory networks that guide their formation.
Changying Jing, Michael Sterr, Özüm Sehnaz Caliskan, Lama Saber, Nicole Katarina Rogers, Samuel Ogden, Kei Kozawa, Christos Karampelias, Jessica Jaki, Aimée Bastidas‐Ponce, Falk Janos Farkas, Oliver Czarnecki, Osvaldo Rodrigues Pereira, Perla Cota, Valerie Vandenbempt, Diego Balboa, Anika Böttcher, Natalie Krahmer, Mohammad Lotfollahi, Julie B. Sneddon, Heiko Lickert, Mostafa Bakhti   +21 more
wiley   +1 more source

Total Intravenous Anesthesia With Remimazolam and Remifentanil for Intraoperative Care of a Child With Venezuelan Heritage, at Risk for a Mitochondrial Disorder. [PDF]

J Med Cases
Tobias M, Dairo K, Slenkovich N, Cambier G, Tobias JD.   +4 more
europepmc   +1 more source

Pre‐Regenerative Endothelial Cells Empowered by Antler Blood Exosomes Orchestrate Peripheral Nerve Repair

Advanced Science, EarlyView.
The pre‐regenerative vascular niche (PVN) is essential for nerve repair, yet its endothelial blueprint remains unclear. We identified angiogenic ECs (AECs) as the dominant pre‐regenerative subset and found that antler blood–derived exosomes (AB‐EXO) promote repair via IMP3.
Jinsheng Huang, Qiang Chen, Aihua Jin, Xiaoqi Yang, Hui Zhou, Weiquan Gong, Jin Cheng, Jun Dai, Minjin Wang, Meihua Piao, Yuanyi Wang, Nan Zhou   +11 more
wiley   +1 more source

Mitochondrial Diabetes May Not Be the Only Phenotypic Presentation of the m.5826A>G mtDNA Variant [Letter]

Pharmacogenomics and Personalized Medicine
Josef Finsterer Neurology & Neurophysiology Center, Vienna, AustriaCorrespondence: Josef Finsterer, Neurological Department, Neurology and Neurophysiology Center, Postfach 20, Vienna, 1180, Austria, Tel/Fax +43-1-5861075, Email fifigs1@yahoo ...
Finsterer J
doaj  

Mitochondrial Disorder in a Child With Brainstem Lesions Mimicking Thiamine Deficiency. [PDF]

Cureus
Asfour MA, Nedimyer Horner J, Gupta K, Silva G, Chandra T, Rossi G.   +5 more
europepmc   +1 more source

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes. [PDF]

Mol Genet Metab Rep, 2021
Hershkovitz T, Kurolap A, Tal G, Paperna T, Mory A, Staples J, Brigatti KW, Regeneron Genetics Center, Gonzaga-Jauregui C, Dumin E, Saada A, Mandel H, Baris Feldman H.   +12 more
europepmc   +1 more source

Engineering Approaches to Modify Immunomodulatory Functions of Mesenchymal Stromal Cells (MSCs): Tissue Regeneration and Clinical Application

Advanced Science, EarlyView.
Mesenchymal stromal cells (MSCs) show promise for treating immune‐related disorders through immunomodulation and tissue regeneration. This review gives a brief overview of current clinical approval of MSC therapies. It also discussed how bioengineering, including genetic modification, biomaterial delivery, extracellular vesicles, and iPSC‐derived MSCs,
Sichen Yang, Kejia Li, Ning Wang, Zhen Li, Zhiyong Zhang, Rocky S. Tuan, Yangzi Jiang   +6 more
wiley   +1 more source

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy. [PDF]

Brain
Armirola-Ricaurte C, Morant L, Adant I, Hamed SA, Pipis M, Efthymiou S, Amor-Barris S, Atkinson D, Van de Vondel L, Tomic A, Seneca S, de Vriendt E, Zuchner S, Ghesquiere B, Hanna MG, Houlden H, Lunn MP, Reilly MM, Milic Rasic V, Jordanova A.   +19 more
europepmc   +1 more source

GHRHR Deficiency Enhances Retinal Ganglion Cell Survival and Visual Functions in Experimental Glaucoma by Inhibiting Ferroptosis

Advanced Science, EarlyView.
Glaucoma, a major cause of blindness, involves retinal ganglion cell (RGC) degeneration. This study shows growth hormone‐releasing hormone receptor (GHRHR) deficiency preserves RGC survival and restores vision, unlike activation which only aids survival.
Yan Tong, Ming Ho Yam, Jiaxin Zhang, Lin Du, Linbin Zhou, Yolanda Wong Ying Yip, Bo Man Ho, Hemlata Bisnauthsing, Jiahui Li, Ivan Kong, Shushu Xu, Changzhen Fu, Karl K.H. So, Joaquim S.L. Vong, Ling‐Ping Cen, Ming‐Ming Yang, Khazeema Yousaf, Mai Har Sham, Sun On Chan, Poemen P. Chan, Chi Pui Pang, Clement C. Tham, Jing Na He, Jian Li, Wai Kit Chu   +24 more
wiley   +1 more source