Results 91 to 100 of about 3,939 (213)

Alstrom syndrome proteins regulate centriolar cartwheel assembly by enabling Plk4-Ana2 amplification loop in Drosophila [PDF]

, 2023
Marine Brunet, J. Thomas, Jean-Andre Lapart, Léo Krüttli, Marine H. Laporte, Maria Giovanna Riparbelli, Giuliano Callaini, Bénédicte Durand, Véronique Morel   +8 more
openalex   +1 more source

Precision medicine to identify, prevent, and treat pediatric obesity

Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, Volume 44, Issue 12, Page 939-947, December 2024.
Abstract Pediatric obesity is a growing health concern that has many secondary adverse health implications. Personalized medicine is a tool that can be used to optimize diagnosis and treatments of many diseases. In this review, we will focus on three areas related to the genetics of pediatric obesity: (i) genetic causes predisposing to pediatric ...
Emma M. Tillman, Selsbiel Mertami
wiley   +1 more source

Cep164, a novel centriole appendage protein required for primary cilium formation [PDF]

, 2007
Primary cilia (PC) function as microtubule-based sensory antennae projecting from the surface of many eukaryotic cells. They play important roles in mechano- and chemosensory perception and their dysfunction is implicated in developmental disorders and ...
Gassner, Oliver S., Graser, Susanne, Lamla, Stefan, Lavoie, Sébastien B., Le Clech, Mikael, Nigg, Erich A., Stierhof, York-Dieter   +6 more
core   +2 more sources

Hypothalamic obesity: Epidemiology in rare sellar/suprasellar tumors—A German claims database analysis

Journal of Neuroendocrinology, Volume 36, Issue 12, December 2024.
Abstract Hypothalamic obesity (HO) is defined as abnormal weight gain resulting in severe persistent obesity due to physical, tumor‐ and/or treatment‐related damage to the hypothalamus. HO epidemiology is poorly understood. We developed a database algorithm supporting the standardized identification of tumor/treatment‐related HO (TTR‐HO) patients.
Julian Witte, Bastian Surmann, Manuel Batram, Markus Weinert, Mathias Flume, Nicolas Touchot, Julia Beckhaus, Carsten Friedrich, Hermann L. Müller   +8 more
wiley   +1 more source

In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies [PDF]

, 2019
International audienceCilia are highly conserved and ubiquitously expressed organelles. Ciliary defects of genetic origins lead to ci-liopathies, in which retinal degeneration (RD) is one cardinal clinical feature. In order to efficiently find and design
Ajoy, Daniel, Brun, Agnès, Dollfus, Hélène, Haser, Elodie, Marion, Vincent, Messaddeq, Nadia, Obringer, Cathy, Roux, Michel,, Stoetzel, Corinne, Yu, Xiangxiang   +9 more
core   +1 more source

Effectiveness of pharmacological interventions for managing obesity in children and adolescents: A systematic review and meta‐analysis framed using minimal important difference estimates based on GRADE guidance to inform a clinical practice guideline

Pediatric Obesity, Volume 19, Issue 11, November 2024.
Summary Objective To summarize the literature on pharmacotherapy for managing paediatric obesity. Methods A systematic review and meta‐analysis were conducted of randomized controlled trials (RCTs) with <18‐year‐olds of pharmacotherapeutic agents published up to November 2022.
Gita Wahi, Julie St‐Pierre, Bradley C. Johnston, Donna Fitzpatrick‐Lewis, Ali Usman, Diana Sherifali, Roah Merdad, Zahra Esmaeilinezhad, Catherine S. Birken, Jill Hamilton, Mélanie Henderson, Sarah A. Moore, Geoff D. C. Ball, Katherine M. Morrison, the Steering Committee for Updating Canada's Clinical Practice Guideline for Managing Pediatric Obesity, Annick Buchholz, Jennifer Cantwell, Jenny Cooper, Julius Erdstein, Stasia Hadjiyannakis, Dawn Hatanaka, Tracy Lebel, Patrice Lindsay, Nicole Pearce, Meghan Sebastianski, Jessica Wijesundera, Ian Zenlea   +26 more
wiley   +1 more source

The Oak Ridge Polycystic Kidney mouse: Modeling ciliopathies of mice and men [PDF]

, 2008
The Oak Ridge Polycystic Kidney (ORPK) mouse was described nearly 14 years ago as a model for human recessive polycystic kidney disease. The ORPK mouse arose through integration of a transgene into an intron of the Ift88 gene resulting in a hypomorphic ...
Aydın Son, Yeşim, BRADLEY K, Yoder, EDWARD J, Michaud, JONATHAN M, Lehman, MİCHAEL, Miller, TRENTON R, Schoeb   +5 more
core   +1 more source

Syndrome Measurement Strategies for the [[7,1,3]] Code [PDF]

arXiv, 2015
Quantum error correction (QEC) entails the encoding of quantum information into a QEC code space, measuring error syndromes to properly locate and identify errors, and, if necessary, applying a proper recovery operation. Here we compare three syndrome measurement protocols for the [[7,1,3]] QEC code: Shor states, Steane states, and one ancilla qubit by
arxiv  

Exploring the diverse clinical and variant spectrum of CEP78‐associated syndrome: Novel pathogenic variants identified in a case series

American Journal of Medical Genetics Part A, Volume 194, Issue 10, October 2024.
Abstract Dual sensory impairment, commonly referred to as combined hearing and vision loss, can stem from a diverse spectrum of conditions, each presenting with its unique set of clinical characteristics. Our understanding of dual sensory impairment has expanded significantly in the past decade, broadening the scope of genetic differential diagnoses ...
Yi Zhai, Brian G. Ballios
wiley   +1 more source

Isolation and characterization of the TIGA genes, whose transcripts are induced by growth arrest [PDF]

, 2006
We report here the isolation of 44 genes that are upregulated after serum starvation and/or contact inhibition. These genes have been termed TIGA, after Transcript Induced by Growth Arrest.
Akagi, Banerjee, Basile, Benetti, Cabrera, Campisi, Chang, Coller, Collin, Cooper, Cui, Dale, Denkert, Duncan, Faderl, Fujii, Galiatsatos, Gorovoy, Havens, Hearn, Hiroaki Onda, Hiroshi Nojima, Ippei Nagamori, Jeon, Jiang, Jivotovskaya, Kamura, Katsanis, Katsuyuki Tamai, Kobayashi, Kobori, Lerner, Li, Mak, Masafumi Watanabe, Meakin, Meyer-Lindenberg, Nagamori, Naohisa Yoshioka, Narayan, Nelson, No, Norikazu Yabuta, Ogawa, Pardee, Plymate, Ren, Sage, Schneider, Shingo Toji, Smith, Takai, Toji, Tomoyuki Funatsu, Tsuruga, Ueno, Watanabe, Yoshida, Yoshioka, Zetterberg   +59 more
core   +2 more sources