Results 221 to 230 of about 21,042 (237)

Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report. [PDF]

Front Pediatr
Kamalova A, Rakhmaeva R, Sageeva G, Safiullina R, Raimova A, Gaichik E, Nasr D, Gobarah AA, Arafat A.   +8 more
europepmc   +1 more source

Cells and ionic conductances contributing to spontaneous activity in bladder and urethral smooth muscle

The Journal of Physiology, EarlyView.
Abstract figure legend Cells and conductances contributing to spontaneous activity in the lower urinary tract. Bladder and urethra exhibit spontaneous contractions at both cellular and tissue levels. Both detrusor and urethral smooth muscle cells display activity that is regular and rhythmic.
Bernard T. Drumm, Neha Gupta, Alexandru Mircea, Caoimhin S. Griffin   +3 more
wiley   +1 more source

Piezo1 in intestinal smooth muscle cells: Emerging perspectives

The Journal of Physiology, EarlyView.
Abstract figure legend Loss of Piezo1 in SMCs results in delayed gut transit, impaired small bowel contractility, and tissue alterations. But more critically, Piezo1 is shown to be intracellularly localized, highlighting important implications given the phenotype. Adapted from Bautista, G.M. et al.
Geoanna M. Bautista, L. Fernando Santana, Martin G. Martin   +2 more
wiley   +1 more source

Radiographic assessment of mucopolysaccharidoses: A pictorial review. [PDF]

World J Clin Pediatr
Teixeira de Castro Gonçalves Ortega AC, Amorim Moreira Alves G, Perera Molligoda Arachchige AS.   +2 more
europepmc   +1 more source

Neurobiology of mitochondrial dynamics in sleep

The Journal of Physiology, EarlyView.
Abstract figure legend In neurons, variations in sleep history are accompanied by alterations in mitochondrial dynamics, including changes in size, fission and fusion events, the emergence of extra‐large and ‘hourglass’‐shaped mitochondria, mitophagy, and modifications in intracristal space volume and in the number of contact sites between mitochondria
Raffaele Sarnataro
wiley   +1 more source

A case of recurrent spinal cord compression at craniocervical junction due to type IV mucopolysaccharidosis. [PDF]

Surg Neurol Int
Hashimoto J, Kawasaki T, Kobayashi T, Ioroi Y, Takayama M.   +4 more
europepmc   +1 more source

Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism

Marya S. Sabir, Vukasin M. Jovanovic, Seungmi Ryu, Chaitali Sen, Pinar Ormanoglu, Laura Pollard, Richard Steet, William A. Gahl, Marjan Huizing, Carlos A. Tristan, Frances M. Platt, May Christine V. Malicdan   +11 more
openalex   +1 more source

The Christianson syndrome protein, sodium hydrogen exchanger isoform 6, is required for fat accumulation

The Journal of Physiology, EarlyView.
Abstract figure legend Nhe6 knockout mice (lower right) show age‐dependent weight loss resulting from lower fat accumulation in adipocytes, similar to Christianson's syndrome patients with NHE6 loss of function mutations. NHE6 is a Na+/H+ exchanger that regulates endosomal pH (pHendo) required for delivery of cargo, including fat and glucose ...
Ruby Gupta, Allatah X. Mekile, Rachana L. Patnayak, Monish Ram Makena, Ray Wesley Bowman II, Cory J. White, Damaris N. Lorenzo, Rajini Rao   +7 more
wiley   +1 more source

Long-Term Open-Label Study Evaluating Oral Miglustat Treatment in Patients With Neuronal Ceroid Lipofuscinosis Type 3. [PDF]

Neurology
Pietrafusa N, Trivisano M, Calabrese C, De Dominicis A, Cappelletti S, Correale C, Salimbene L, Vallesi L, Corsetti T, Specchio N.   +9 more
europepmc   +1 more source