Results 181 to 190 of about 88,189 (312)

Long‐read sequencing‐based atlas of tissue‐specific expression of DNM1L transcript variants

The FEBS Journal, EarlyView.
Targeted long‐read sequencing resolves full‐length DNM1L (Drp1) isoforms and reveals conserved, tissue‐specific expression patterns across human and mouse tissues. Functional assays show that Drp1 isoforms differ in their ability to drive mitochondrial fission, independent of abundance, with specific exons modulating activity.
Feng Yan, Jafar S. Jabbari, Naomi X. L. Ling, Anne M. Kong, Jia Q. Truong, Marnie L. Maddock, Ayeshah A. Rosdah, Christopher G. Langendorf, Lifang Zhang, Jarmon G. Lees, Sebastian Bass‐Stringer, Danise Ann Onda, Alice Pébay, Mirella Dottori, Kim Loh, Jessica K. Holien, Sean Lal, Nadia M. Davidson, Jonathan S. Oakhill, Shiang Y. Lim   +19 more
wiley   +1 more source

The Long and Winding Road: Diagnostic Delays in Functional Seizures. [PDF]

Epilepsy Curr
Terman SW.
europepmc   +1 more source

Dining on an Odyssey

, 1984
Golden Odyssey, Royal Odyssey, Royal Cruise Line   +2 more
core  

Astrocytic connexin43 phosphorylation contributes to seizure susceptibility after mild traumatic brain injury

The FEBS Journal, EarlyView.
Astrocytic gap junctions formed by connexin43 (Cx43) help maintain brain homeostasis. After mild traumatic brain injury (TBI), total cortical Cx43 increases and redistributes toward a soluble, non‐junctional pool with elevated hemichannel activity and increased phosphorylation at serine 368 (pCx43S368).
Carmen Muñoz‐Ballester, Owen Leitzel, Samantha Golf, Chelsea M. Phillips, Michael J. Zeitz, Rahul Pandit, Elizabeth Wash, Jenna V. Donohue, Elizabeth A. Istre, James W. Smyth, Samy Lamouille, Stefanie Robel   +11 more
wiley   +1 more source

It Takes 2 (Repeats) to Lose TANGO2. [PDF]

Neurol Genet
Brutman JN, Hendricks NE, Valdmanis PN.
europepmc   +1 more source

The sorting nexin Snx21 promotes flotillin‐mediated endocytosis

The FEBS Journal, EarlyView.
In this study, we describe a novel function of the previously uncharacterized Snx21 protein as a specific positive regulator of flotillin‐mediated endocytic trafficking. Snx21 is recruited to endosomal membranes via binding to PI(3)P, and it colocalizes with flotillins on the surface of late endosomes.
Tamás Maruzs, Enikő Lakatos, Dalma Feil‐Börcsök, Gábor Juhász, Regina Mező, Asha Kiran Maddali, András Blastyák, Aladár Pettkó‐Szandtner, Hajnalka Laczkó‐Dobos, Gábor Juhász   +9 more
wiley   +1 more source

Harnessing Patient-Generated Data for Rare Disease Knowledge Enrichment: A Pilot Study. [PDF]

Stud Health Technol Inform
Hui SWY, Chen F, Wang K, Weng C.
europepmc   +1 more source

Enhancing the Evidence for Care in Underserved Bleeding Disorders Communities

Haemophilia, EarlyView.
ABSTRACT Background Major advances in haemophilia care have not translated equitably across all populations. Individuals with rare bleeding disorders (RBDs), people living in low‐ and lower‐middle‐income countries (LMICs) and women and girls with inherited bleeding disorders (WGWBD) continue to face significant diagnostic, therapeutic and research ...
Johnny Mahlangu
wiley   +1 more source

ODYSSEY-HCM trial (mavacamten in symptomatic nonobstructive hypertrophic cardiomyopathy). [PDF]

Eur Heart J Cardiovasc Pharmacother
Monda E, Limongelli G.
europepmc   +1 more source

Reading and relating with Frieda Fromm‐Reichmann and Joanne Greenberg

Critical Quarterly, EarlyView.
Joshua Pugh
wiley   +1 more source