Results 41 to 50 of about 7,870 (178)

On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies

Frontiers in Cell and Developmental Biology, 2021
Ciliopathies are a group of heterogeneous inherited disorders associated with dysfunction of the cilium, a ubiquitous microtubule-based organelle involved in a broad range of cellular functions. Most ciliopathies are syndromic, since several organs whose
Laura Sánchez-Bellver, Laura Sánchez-Bellver, Vasileios Toulis, Vasileios Toulis, Gemma Marfany, Gemma Marfany, Gemma Marfany   +6 more
doaj   +1 more source

Ciliary Hedgehog signaling regulates cell survival to build the facial midline

eLife, 2021
Craniofacial defects are among the most common phenotypes caused by ciliopathies, yet the developmental and molecular etiology of these defects is poorly understood.
Shaun R Abrams, Jeremy F Reiter
doaj   +1 more source

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

American Journal of Medical Genetics Part A, EarlyView.
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

Loss of Twist1 leads to disruption of ciliary length, endocytic vesicle dynamics, and cell–cell junctions during neural tube formation

Developmental Dynamics, EarlyView.
Abstract Background Endocytosis constitutes a fundamental cellular process governing development through coordinated regulation of plasma membrane remodeling and ciliogenesis, processes essential for cell shape changes and tissue development. Although Twist1 null embryos display complete cranial neural tube (NT) closure defects and conditional knockout
Derrick Thomas, Brittany M. Hufft‐Martinez, Zarna Lalwani, Vi Pham, Mary Elmeniawi, An J. Tran, Jianming Xu, Irfan Saadi, Walid D. Fakhouri   +8 more
wiley   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Ccrk-Mak/Ick signaling is a ciliary transport regulator essential for retinal photoreceptor survival

Life Science Alliance
This study shows that the ciliopathy kinases Mak and Ick cooperatively act as ciliary tip-localized IFT regulators that are phosphorylated and activated by Ccrk in retinal photoreceptor cells.
Taro Chaya, Yamato Maeda, Ryotaro Tsutsumi, Makoto Ando, Yujie Ma, Naoko Kajimura, Teruyuki Tanaka, Takahisa Furukawa   +7 more
doaj   +1 more source

Congenital hepatic fibrosis: case report and review of literature

The Pan African Medical Journal, 2021
Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease derived from biliary dysgenesis secondary to ductal plate malformation; it often coexists with Caroli’s disease, von Meyenburg complexes, autosomal dominant polycystic kidney disease
Brahim El Hasbaoui, Zainab Rifai, Salahiddine Saghir, Anas Ayad, Najat Lamalmi, Rachid Abilkassem, Aomar Agadr   +6 more
doaj   +1 more source

The Multifaceted Roles of Primary Cilia in the Development of the Cerebral Cortex

Frontiers in Cell and Developmental Biology, 2021
The primary cilium, a microtubule based organelle protruding from the cell surface and acting as an antenna in multiple signaling pathways, takes center stage in the formation of the cerebral cortex, the part of the brain that performs highly complex ...
Kerstin Hasenpusch-Theil, Kerstin Hasenpusch-Theil, Thomas Theil, Thomas Theil   +3 more
doaj   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Exploring the Spectrum of Kidney Ciliopathies [PDF]

Diagnostics, 2020
Ciliopathies are a group of multi-organ diseases caused by the disruption of the primary cilium. This event leads to a variety of kidney disorders, including nephronophthisis, renal cystic dysplasia, and renal cell carcinoma (RCC). Primary cilium contributes to the regulation of the cell cycle and protein homeostasis, that is, the balance between ...
Santoni, Matteo, Piva, Francesco, Cimadamore, Alessia, Giulietti, Matteo, Battelli, Nicola, Montironi, Rodolfo, Cosmai, Laura, Porta, Camillo   +7 more
openaire   +4 more sources