Results 101 to 110 of about 5,744 (198)

The Caenorhabditis elegans Elongator complex regulates neuronal alpha-tubulin acetylation.

PLoS Genetics, 2010
Although acetylated alpha-tubulin is known to be a marker of stable microtubules in neurons, precise factors that regulate alpha-tubulin acetylation are, to date, largely unknown.
Jachen A Solinger, Roberta Paolinelli, Holger Klöss, Francesco Berlanda Scorza, Stefano Marchesi, Ursula Sauder, Dai Mitsushima, Fabrizio Capuani, Stephen R Stürzenbaum, Giuseppe Cassata   +9 more
doaj   +1 more source

Sugar-free chewing gum and dental caries : a systematic review [PDF]

, 2007
OBJECTIVE: To appraise existing evidence for a therapeutic / anti-cariogenic effect of sugar-free chewing gum for patients. METHOD: 9 English and 2 Portuguese databases were searched using English and Portuguese keywords.
Bezerra, Ana Cristina, Cruvinel, Vanessa Resende Nogueira, Leal, Soraya Coelho, Mickenautsch, Steffen, Yengopal, Veerasamy   +4 more
core   +3 more sources

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Ventricular Tachycardia in the Absence of Structural Heart Disease [PDF]

, 2005
In up to 10% of patients who present with ventricular tachycardia (VT), obvious structural heart disease is not identified. In such patients, causes of ventricular arrhythmia include right ventricular outflow tract (RVOT) VT, extrasystoles, idiopathic ...
Appleton, Christopher P, Lester, Steven J, Munger, Thomas M, Scott, Luis R P, Srivathsan, Komandoor   +4 more
core   +1 more source

Adaptación de lente de contacto cosmética en un caso de midriasis máxima irrefléxica y estrabismo tras cirugía complicada de cataratas [PDF]

, 2014
Se presenta un caso clínico con solución de lente de contacto cosmética para una paciente con midriasis máxima irrefléxica provocada por una complicación en cirugía de cataratas. El caso se complica al tener la paciente, además, una endo e hipertropía en
Castejón García, Raquel, Piñero, David P., Pérez Cambrodí, Rafael J., Ruiz Fortes, Pedro   +3 more
core   +1 more source

Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia

Neurobiology of Disease
Familial Dysautonomia (FD) is an autosomal recessive disorder caused by a splice site mutation in the gene ELP1, which disproportionally affects neurons.
Frederik Arnskötter, Patricia Benites Goncalves da Silva, Mackenna E. Schouw, Chiara Lukasch, Luca Bianchini, Laura Sieber, Jesus Garcia-Lopez, Shiekh Tanveer Ahmad, Yiran Li, Hong Lin, Piyush Joshi, Lisa Spänig, Magdalena Radoš, Mykola Roiuk, Mari Sepp, Marc Zuckermann, Paul A. Northcott, Annarita Patrizi, Lena M. Kutscher   +18 more
doaj   +1 more source

Familial dysautonomia [PDF]

The Journal of Pediatrics, 1958
openaire   +4 more sources

Commentary: Congenital corneal anesthesia: A rare form of type-4 familial dysautonomia

Indian Journal of Ophthalmology, 2022
Muralidhar Ramappa, Sunita Chaurasia, Lokesh Lingappa, Srinivas Namineni, Deepak P Edward   +4 more
doaj   +1 more source

Retrograde nerve growth factor signaling abnormalities and the pathogenesis of familial dysautonomia

Neural Regeneration Research, 2021
Soumitra Ghosh, Lin Li, Warren G Tourtellotte   +2 more
doaj   +1 more source

Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure.

PLoS ONE
Familial Dysautonomia (FD) is a rare disease caused by ELP1 exon 20 skipping. Here we clarify the role of RNA Polymerase II (RNAPII) and chromatin on this splicing event.
Federico Riccardi, Giulia Romano, Danilo Licastro, Franco Pagani   +3 more
doaj   +1 more source