Results 81 to 90 of about 18,843 (239)

Tubulin Polymerization Promoting Proteins: Functional Diversity With Implications in Neurological Disorders

Journal of Neuroscience Research, Volume 103, Issue 5, May 2025.
A family of human proteins, encoded by Tubulin Polymerization Promoting Proteins (TPPP), is highly conserved across species. TPPP displays remarkable functional diversity and is implicated in various neurological disorders. Image created with BioRender.com.
Paloma J. Diaz, Qian Shi, Priscilla Y. McNeish, Swati Banerjee   +3 more
wiley   +1 more source

An overview of current prenatal genetic screening and diagnosis guidelines

Pregnancy, Volume 1, Issue 3, May 2025.
Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked with staying current with the latest recommendations for prenatal genetic screening and diagnosis in order to provide patient‐centered and evidence‐based care. We present a review of 15 societal guidelines
Carmen M. A. Santoli, Sarah K. Dotters‐Katz, Teresa N. Sparks, Jeffrey A. Kuller   +3 more
wiley   +1 more source

A case report of Joubert syndrome with renal involvement and seizures in a neonate

Radiology Case Reports, 2021
Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of “the molar tooth sign” on axial magnetic resonance imaging (MRI).
Ilir Ahmetgjekaj, PhD, Masum Rahman, MD, Fjolla Hyseni, MD, Ali Guy, Kulsum Madani, MD, Kristi Saliaj, MD, Angela Guy, MD, PhD, Valon Vokshi, Ina Kola, MD, Juna Musa, MD, MSc   +9 more
doaj  

Methods to Assess Neuronal Primary Cilia Electrochemical Signaling

Journal of Cellular Physiology, Volume 240, Issue 4, April 2025.
Hippocampal neuron primary cilia are illuminated with a fluorescent biosensor. ABSTRACT Primary cilia are polymodal sensory organelles which project from the apical side of polarized cells. They are found in all brain hemispheres but are most pronounced in neurons, which comprise the granular layers of the hippocampus and cerebellum.
Paul G. DeCaen, Louise F. Kimura
wiley   +1 more source

Neurocognitive Functions and Behavior in Joubert Syndrome

Pediatric Neurology Briefs, 2016
Investigators from multiple Italian pediatric neurology and neurogenetics departments studied cognitive functions, behavior, and adaptive functioning in large cohort of 54 patients with Joubert syndrome (JS) as part of a prospective, multi-center study.
Andrea Poretti, Gwendolyn J. Gerner
doaj   +1 more source

Fetal Corpus Callosum Anomalies

Journal of Ultrasound in Medicine, Volume 44, Issue 4, Page 637-652, April 2025.
Anomalies of the corpus callosum (CC) are amongst the most common fetal Central Nervous System (CNS) anomalies detectable on ultrasound. Underlying genetic disease plays an important part in defining prognosis. Associations with aneuploidy and submicroscopic chromosomal deletions or duplications have been well demonstrated using chromosomal microarray ...
Valeria Lanzarone, Elisenda Eixarch, Antoni Borrell   +2 more
wiley   +1 more source

UFMylation Modulates OFIP Stability and Centrosomal Localization

Journal of Clinical Laboratory Analysis, Volume 39, Issue 6, March 2025.
We demonstrate that OFIP is a novel substrate for UFMylation. UFL1‐mediated OFIP UFMylation is essential for its protein stability and centrosomal localization. ABSTRACT Background OFIP, also known as KIAA0753, is a centrosomal and pericentriolar satellite protein implicated in ciliogenesis, centriolar duplication, and microtubule stability. In humans,
Mulin Yang, Zihe Zhao, Jie Di, Dan Dong, Dengwen Li, Jie Ran   +5 more
wiley   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes [PDF]

, 2017
Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to ...
Aral, B, Argente, J, Attie-Bitach, T, Baumann, C, Birnbaum, D, Blacque, OE, Bongers, E, Bruel, A-L, Burglen, L, Chevrier, V, Cormier-Daire, V, David, A, Deleuze, J-F, Desguerres, I, Dieux, A, Doray, B, Doummar, D, Duffourd, Y, Eguether, T, Faivre, L, Fargeot-Espaliat, A, Franco, B, Gaillard, D, Gigot, N, Gilbert-Dussardier, B, Giles, RH, Goldenberg, A, Goldstein, JS, Herranz-Pérez, V, Huynen, MA, Jego, L, Johnson, CA, Leroux, MR, Loget, P, Lopez, E, Morleo, M, Mégarbané, A, Nachury, MV, Panigrahi, I, Pasquier, L, Pazour, GJ, Phadke, SR, Pierquin, G, Reversade, B, Rivière, J-B, Rosnet, O, Saunier, S, St-Onge, J, Steichen-Gersdorf, E, Thauvin-Robinet, C, Thevenon, J, Wallingford, JB   +51 more
core   +2 more sources

Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia

Case Reports in Pediatrics, 2011
We describe two sisters who presented in early childhood with motor delay and unusual eye movements. Both demonstrated hypotonia and poor visual attention.
Harjinder Gill, Brinda Muthusamy, Denize Atan, Cathy Williams, Matthew Ellis   +4 more
doaj   +1 more source