Results 61 to 70 of about 9,546 (191)

Developmental disruptions underlying brain abnormalities in ciliopathies [PDF]

, 2015
Primary cilia are essential conveyors of signals underlying major cell functions. Cerebral cortical progenitors and neurons have a primary cilium.
Hirt, Josua, Ghukasyan, Vladimir, Jingjun Li, Higginbotham, Holden, Jiami Guo, Guo, Jiami, Anton, E.S., Holden Higginbotham, Jackie Nichols, Nichols, Jackie, Vladimir Ghukasyan, Josua Hirt, E. S. Anton, Li, Jingjun   +13 more
core   +1 more source

Mitochondrial control of ciliary gene expression and structure in striatal neurons

The Journal of Physiology, EarlyView.
Abstract figure legend Neurons drive animal behaviour by receiving and transmitting information and require energy, primarily supplied by mitochondria, to function. Additionally, neurons need to sense environmental changes to adapt, a function that is locally played by the primary cilia.
Dogukan H. Ulgen, Alessandro Chioino, Olivia Zanoletti, Albert Quintana, Elisenda Sanz, Carmen Sandi   +5 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

IMPROVE 2025: The 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence

Clinical Obesity, Volume 16, Issue 5, October 2026.
ABSTRACT An international cohort of 161 clinicians and researchers from 19 countries attended the 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE) in Prague, Czech Republic, on 2–4 July 2025. The aims of the meeting were to advance understanding of hyperphagia and obesity caused by defects in the melanocortin‐4 receptor
Jesús Argente, Erica L. T. van den Akker, Metin Cetiner, Karine Clément, Elizabeth Forsythe, Alastair Garfield, Peter Kühnen, Gabriel Ángel Martos‐Moreno, David Meeker, Hermann L. Müller, Hanneke M. van Santen, Julia von Schnurbein, Bérénice Segrestin, Tomohiro Tanaka, Manuel Tena‐Sempere, Martin Wabitsch, Stefanie Zorn, I. Sadaf Farooqi   +17 more
wiley   +1 more source

Characterizing the morbid genome of ciliopathies [PDF]

, 2016
Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome ...
Derar, N, Halees, A, Nada Al Tassan, Dorota Monies, Logan, CV, Nisha Patel, Szymanska, K, Al-Owain, M, Monies, D, Seidahmed, MZ, Hadeel Alsharif, Mohamed El-Kalioby, Tabarki, B, Abouelhoda, M, Alkuraya, H, Maha Alnemer, Morsy, H, Clare V. Logan, Meriki, N, Al-Husain, M, Johnson, CA, Alsharif, H, Nour Ewida, Sonbul, R, Mustafa A. Salih, Fowzan S. Alkuraya, Mohammed A. Aldahmesh, Mohammed Al-Owain, null null, David A. Parry, Rawda Sonbul, Aldahmesh, MA, Shaheen, R, Anas M. Alazami, Amal Al Hashem, AlShahwan, S, Faquih, T, Basu, B, Katarzyna Szymanska, Mohammed Zain Seidahmed, Marius Ueffing, Al Tala, S, Ranad Shaheen, Eissa Faqeih, Tariq Faquih, Hisham Alkuraya, Brahim Tabarki, Al Tassan, N, Ewida, N, El-Kalioby, M, Mohamed Abouelhoda, Anason Halees, Al Hashem, A, Alkuraya, FS, Nada Derar, Andre Megarbane, Alnemer, M, Mais Hashem, Abdulwahab, FM, Ueffing, M, Saeed Al Tala, Karsten Boldt, Colin A. Johnson, Boldt, K, Saad AlShahwan, Ibrahim, N, Niema Ibrahim, Heba Morsy, Hashem, M, Salih, MA, Parry, DA, Megarbane, A, Faqeih, E, Alazami, AM, Basudha Basu, Neama Meriki, Patel, N, Firdous M. Abdulwahab, Muneera Al-Husain   +78 more
core   +1 more source

An emerging molecular understanding and novel targeted treatment approaches in pediatric kidney diseases

Frontiers in Pediatrics, 2014
The evaluation and treatment of the heterogeneous group of pediatric kidney diseases poses a challenging field in pediatrics. Many of the pediatric disorders resulting in severe renal affection are exceedingly rare and therapeutic approaches have ...
Max Christoph Liebau, Max Christoph Liebau   +1 more
doaj   +1 more source

Congenital solitary kidney in autosomal dominant polycystic kidney disease: Where do known genes end and the unknown begin?

Clinical Case Reports, 2023
Key Clinical Message We present the case of a 41‐year‐old man patient diagnosed with solitary left kidney with few cysts. He has a family history of unilateral renal agenesis (URA) but no for autosomal dominant polycystic kidney disease (ADPKD).
Romina Bucci, Francesca Tunesi, Liliana Italia De Rosa, Paola Carrera, Giulia Mancassola, Martina Catania, Giuseppe Vezzoli, Maria Teresa Sciarrone Alibrandi   +7 more
doaj   +1 more source

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Ciliopathies: an expanding disease spectrum [PDF]

Pediatric Nephrology, 2011
Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that include characteristically, retinal degeneration, renal ...
Waters, Aoife M., Beales, Philip L.
openaire   +2 more sources