Results 61 to 70 of about 6,310 (174)
Joubert syndrome.
Indian pediatrics, 1995 Joubert's syndrome is clinically characterized by attacks of tachypnea alternating with respiratory pauses, abnormal ocular movements, psychomotor retardation, and ataxia. Anatomic anomalies include cerebellar vermis agenesis with dilatation of the fourth ventricle. It is an autosomal recessive disorder; onset is in the neonatal period and prognosis is A, Chattopadhyay, A M, Shah, S M, Khambadkone, K M, Dixit, B A, Bharucha, S F, Irani +5 moreopenaire +3 more sourcesDevelopment of a Genetically Encoded and Potent PDE6D Inhibitor
ChemBioChem, Volume 26, Issue 24, December 11, 2025.PDE6D is a trafficking chaperone of prenylated proteins. Current small molecule PDE6D inhibitors target its hydrophobic pocket, rendering them typically poorly water soluble. Herein, PDE6D binders are generated by combining parts of the K‐Ras4B and INPP5E C‐termini. The genetically encoded high‐affinity PDE6D inhibitor SNAP‐STI is thus generated.Atanasio Gómez‐Mulas, Elisabeth Schaffner‐Reckinger, Hanne Peeters, Rohan Chippalkatti, Arnela Dautbasic, Matthew James Smith, Shehab Ismail, Daniel Kwaku Abankwa +7 morewiley +1 more sourceJoubert syndrome [PDF]
Kidney International, 2008 Sampathkumar, Krishnaswamy, Sooraj, Yesudas Santhakumari, Karunakaran, Narayanan, Ganesh, Rajagopal, Mahaldar, Amol Ramesh +4 moreopenaire +3 more sourcesNovel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel–Gruber Syndrome 8 in a Non‐Consanguineous Chinese Family
Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.Genetic analysis of the fetus with Meckel–Gruber syndrome 8 and the spectrum of TCTN2 variants. ABSTRACT Introduction
Meckel‐Gruber syndrome (MKS, OMIM 24,900), also known as Meckel syndrome, is a rare and severe autosomal recessive disorder. The syndrome is typically characterized by a triad of occipital encephalocele, bilateral renal cystic dysplasia,Qi Yang, Wei He, Qiang Zhang, Sheng Yi, Xunzhao Zhou, Shujie Zhang, Shang Yi, Qinle Zhang, Jingsi Luo +8 morewiley +1 more sourceThe Concise Guide to PHARMACOLOGY 2025/26: G protein‐coupled receptors
British Journal of Pharmacology, Volume 182, Issue S1, Page S24-S151, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,Stephen P. H. Alexander, Anthony P. Davenport, Eamonn Kelly, Alasdair J. Gibb, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Maria Pia Abbracchio, George R. Abraham, Alexander Agoulnik, Wayne Alexander, Khaled Al‐hosaini, Magnus Bäck, Jillian G. Baker, Nicholas M. Barnes, Ross Bathgate, Jean‐Martin Beaulieu, Annette G. Beck‐Sickinger, Maik Behrens, Kirstie A. Bennett, Kenneth E. Bernstein, Bernhard Bettler, Nigel J. M. Birdsall, Victoria A. Blaho, Pascal Bonaventure, Francois Boulay, Corinne Bousquet, Hans Bräuner‐Osborne, Andrew J. Brown, Geoffrey Burnstock, Marta Busnelli, Girolamo Caló, Vanni Caruso, Justo P. Castaño, Kevin J. Catt, Stefania Ceruti, Paul Chazot, Nan Chiang, Bice Chini, Arthur Christopoulos, Jerold Chun, Antonia Cianciulli, Olivier Civelli, Lucie H. Clapp, Réjean Couture, Helen M. Cox, Zsolt Csaba, Claes Dahlgren, Frank M. Dautzenberg, Gordon Dent, Steven D. Douglas, Pascal Dournaud, Margarita L. Dubocovich, Satoru Eguchi, Emanuel Escher, Edward J. Filardo, Tung Fong, Huamei Fu Forsman, Marta Fumagalli, Raul R. Gainetdinov, Michael L. Garelja, Marc de Gasparo, Florence Gbahou, Craig Gerard, Marvin Gershengorn, Michelle Glass, David E. Gloriam, Fernand Gobeil, Theodore L. Goodfriend, Cyril Goudet, Lukas Grätz, Karen J. Gregory, Christian Gruber, Andrew L. Gundlach, Jörg Hamann, Julien Hanson, Deborah S. Hartman, Richard L. Hauger, Debbie L. Hay, Akos Heinemann, Laura Heitman, Deron R. Herr, Morley D. Hollenberg, Nicholas D. Holliday, Birgitte Holst, Mastgugu Horiuchi, Daniel Hoyer, László Hunyady, Ahsan Husain, Adriaan P. IJzerman, Tadashi Inagami, Paul A. Insel, Kenneth A. Jacobson, Laura H. Jacobson, Robert T. Jensen, Ralf Jockers, Deepa Jonnalagadda, Sadashiva Karnik, Klemens Kaupmann, Jacqueline Kemp, Charles Kennedy, Yasuyuki Kihara, Julia Kinsolving, Takio Kitazawa, Pawel Kozielewicz, Hans‐Jürgen Kreienkamp, Jyrki P. Kukkonen, Luxmichan Laishram, Tobias Langenhan, Christopher J. Langmead, Dan Larhammar, Katie Leach, Davide Lecca, John D. Lee, Susan E. Leeman, Jérôme Leprince, Rob Leurs, Xaria X. Li, Ines Liebscher, Stephen J. Lolait, Amelie Lupp, Robyn Macrae, Janet J. Maguire, Davide Malfacini, Maurice Manning, Davide Marangon, Kirill Martemyanov, Jean Mazella, Craig A. McArdle, Shlomo Melmed, Martin C. Michel, Laurence J. Miller, Vincenzo Mitolo, Bernard Mouillac, Christa E. Müller, Philip M. Murphy, Jean‐Louis Nahon, Richard R. Neubig, Tony Ngo, Xavier Norel, Duuamene Nyimanu, Anne‐Marie O’Carroll, Stefan Offermanns, Maria Antonietta Panaro, Marc Parmentier, Nicole Perry‐Hauser, Roger G. Pertwee, Jean‐Philippe Pin, Eric R. Prossnitz, Helena Chengxue Qin, Mark Quinn, Stefano Raffaele, Rithwik Ramachandran, Manisha Ray, Rainer K. Reinscheid, Alejandro Romeral Buzón, Philippe Rondard, Mette M. Rosenkilde, G. Enrico Rovati, Chiara Ruzza, Gareth J. Sanger, Nicole Scholz, Torsten Schöneberg, Gunnar Schulte, Stefan Schulz, Deborah L. Segaloff, Charles N. Serhan, Arun K. Shukla, Khuraijam Dhanachandra Singh, Craig M. Smith, Nicola J. Smith, Claudia Stäubert, Leigh A. Stoddart, Yukihiko Sugimoto, Roger Summers, Valerie P. Tan, David M. Thal, Walter ( Wally) Thomas, Pieter B. M. W. M. Timmermans, Kalyan Tirupula, Lawrence Toll, Giovanni Tulipano, Hamiyet Unal, Thomas Unger, Celine Valant, Patrick Vanderheyden, David Vaudry, Hubert Vaudry, Joseph G. Verbalis, Jean‐Pierre Vilardaga, Christopher S. Walker, Ji Ming Wang, Donald T. Ward, Hans‐Jürgen Wester, Gary B. Willars, Tom Lloyd Williams, Trent M. Woodruff, Huixian Wu, Cheng Yang, Chengcan Yao, Richard D. Ye, Nathan Zaidman +206 morewiley +1 more sourcePIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect
Clinical Genetics, Volume 108, Issue 6, Page 696-707, December 2025.Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus +9 morewiley +1 more sourceNeurocognitive 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. Gernerdoaj +1 more source
