Results 71 to 80 of about 20,451 (238)

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism

Annals of Neurology, EarlyView.
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alves, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony E. Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Gary D. Clark, Jill A. Rosenfeld, Carrie A. Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi‐Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hanna Mandel, Amy Kimball, Antonie D. Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad ElGhazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi‐Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeideh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A. Haridy, Pinar Ozkan Kart, Ali Cansu, Madeleine Joubert, Claire Beneteau, Kyra E. Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Porter, Tania Attié‐Bitach, Pauline Marzin, Dorota Wicher, Jessica I. Gold, Elisabeth Schuler, Amna Kashgari, Rakan F. Alanazi, Wafaa Eyaid, Marc Engelen, Mirjam Langeveld, Burkhard Stüve, Yun Li, Gökhan Yigit, Bernd Wollnik, Mariana H.G Monje, Dimitri Krainc, Niccolò E. Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Giovanni Zifarelli, Peter Bauer, Wendy K Chung, James R. Lupski, Manju A. Kurian, Jörg Dötsch, Jürgen‐Christoph von Kleist‐Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Rita Carsetti, Carlo Dionisi‐Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth   +140 more
wiley   +1 more source

Joubert Syndrome with a Rare Finding of Pathological Mandibular Angle Fracture [PDF]

Journal of Krishna Institute of Medical Sciences University, 2021
Joubert Syndrome (JS) is a rare congenital condition first reported by French Neurologist Marie Joubert in 1969 which shows multi-organ manifestations including developmental, neurological, renal, hepatic, ocular and orofacial abnormalities.
Vathsala Patil , Shruthi Acharya , Chandni Proothi , Pratichi Tripathi , Aditi Tamrakar, Ravindranath Vineetha   +5 more
doaj  

A case report of joubert syndrome in adult presenting with seizures [PDF]

, 2014
Joubert syndrome (JS) is rare autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay, and variable occurrence of oculomotor apraxia and neonatal breathing abnormalitie,intellectual disability, and specific mid-hindbrain ...
Nayaib Hashmi, Ramla, ul Kiram, Umm
core   +1 more source

Patient-powered research networks: building capacity for conducting patient-centered clinical outcomes research. [PDF]

, 2014
The Patient-Centered Outcomes Research Institute (PCORI) recently launched PCORnet to establish a single inter-operable multicenter data research network that will support observational research and randomized clinical trials.
Andrew A. Nierenberg, Bruce Robinson, Esi Morgan Dewitt, Florian Eichler, Holly Peay, Janice Buelow, John Walsh, Kathleen E. Sullivan, Liz Horn, Marc Natter, Mark Pletcher, Megan O'Boyle, Michael D Kappleman, Paul Avillach, Peter A. Merkel, Rachael Fleurence, Rebecca Sutphen, Richard Colletti, Richard Mularski, Robert McBurney, Sarah E Daugherty, Sarita Wahba, Seth Ginsberg, Sue Friedman, Susan Redline   +24 more
core   +1 more source

Dynamics of primary cilia in endothelial and mesenchymal cells throughout mouse lung development

Developmental Dynamics, EarlyView.
Abstract Cilia are specialized structures found on a variety of mammalian cells, with variable roles in the transduction of mechanical and biological signals (by primary cilia, PC), as well as in the generation of fluid flow (by motile cilia). Their critical role in the establishment of a left–right axis in early development is well described, as well ...
Stephen Spurgin, Ange Michelle Nguimtsop, Fatima N. Chaudhry, Sylvia N. Michki, Jocelynda Salvador, M. Luisa Iruela‐Arispe, Jarod A. Zepp, Saikat Mukhopadhyay, Ondine Cleaver   +8 more
wiley   +1 more source

Üner Tan Syndrome: Review and Emergence of Human Quadrupedalism in Self-Organization,\ud Attractors and Evolutionary Perspectives\ud [PDF]

, 2012
The first man reported in the world literature exhibiting habitual quadrupedal locomotion was discovered by a British traveler and writer on the famous Baghdat road near Havsa/Samsun on the middle Black-Sea coast of Turkey (Childs, 1917).
Karaca, Dr. Sibel, Tamam, Prof. Dr. Yusuf, Tan, Prof. Dr. Meliha, Tan, Prof. Dr. Uner   +3 more
core  

Identification of novel genes regulating the development of the palate

Developmental Dynamics, EarlyView.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +1 more source

Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant

Prenatal Diagnosis, EarlyView.
Abstract Joubert syndrome is a rare autosomal recessive ciliopathy defined by the “molar tooth” sign caused by cerebellar vermis hypoplasia and abnormal superior cerebellar peduncles. Over 40 genes are known to cause the disorder, including KIAA0586, which encodes the centrosomal protein TALPID3, essential for ciliogenesis and Hedgehog signaling ...
Tamara Casteleyn, Markus Vogt, Alexander Weichert, Béla Zimmer, Birgit Lala, Wolfgang Henrich, Josefine Theresia Königbauer   +6 more
wiley   +1 more source

Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report

Radiology Case Reports
Joubert syndrome is a rare congenital cerebral developmental malformation that primarily affects the cerebellum. It is characterized by the absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign) on a transverse
Tsega Hagos Mehari, MD, Bemnet Mengesha Tessema, MD, Redaie Girmay Gebrekidan, MD   +2 more
doaj   +1 more source

PCAN: phenotype consensus analysis to support disease-gene association [PDF]

, 2016
Comparison of genes within the “Anchoring of the basal body to the plasma membrane” pathway to HP terms describing Joubert syndrome. (a) Distribution of symmetric semantic similarity scores of genes for the 8 HP terms related to Joubert syndrome. The
Matthew Page, Patrice Godard
core   +2 more sources