Results 51 to 60 of about 8,699 (199)

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

Ciliopathies: an Update [PDF]

Pediatrics Research International Journal, 2015
Cilia are hair-like organelles that extend from the surface of almost all human cells. Nine doublet microtubule pairs make up the core of each cilium, known as the axoneme. Cilia are classified as motile or immotile; non motile or primary cilia are involved in sensing the extracellular environment. These organelles mediate perception of chemo-, mechano-
Alba Faus-Pérez, Amparo Sanchis-Calvo, Pilar Codoñer-Franch   +2 more
openaire   +1 more source

When Cilia Go Bad: The Complex Genetics of Ciliopathies

, 2021
Disruption of ciliary and basal body function has been associated with a growing number of human genetic disorders, collectively termed ciliopathies. Cilia can roughly be divided into motile or non-motile cilia.
Anna Lindstrand, Lindstrand, A,
core   +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

Fetal ciliopathies: a retrospective observational single-center study

, 2021
PURPOSE: Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. METHODS: Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ...
Floeck, Anne, Gembruch, Ulrich, Geipel, Annegret, Mueller, Andreas, Strizek, Brigitte, Simonini, Corinna   +5 more
core   +1 more source

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +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

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. [PDF]

, 2015
Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes.
Daniel J. Jagger, Zakia A. Abdelhamed, Johnson, CA, Carmel Toomes, Jagger, DJ, Johnson, Colin A., Toomes, C, Wheway, G, Christopher F. Inglehearn, Colin A. Johnson, Jagger, Daniel J., Toomes, Carmel, Abdelhamed, ZA, Abdelhamed, Zakia A., Subaashini Natarajan, Inglehearn, CF, Natarajan, Subaashini, Gabrielle Wheway, Inglehearn, Christopher F., Natarajan, S, Inglehearn, Chris F., Wheway, Gabrielle   +21 more
core   +1 more source

Primary cilia and actin regulatory pathways in renal ciliopathies

Frontiers in Nephrology
Ciliopathies are a group of rare genetic disorders caused by defects to the structure or function of the primary cilium. They often affect multiple organs, leading to brain malformations, congenital heart defects, and anomalies of the retina or skeletal ...
Rita Kalot, Rita Kalot, Zachary Sentell, Thomas M. Kitzler, Thomas M. Kitzler, Elena Torban, Elena Torban   +6 more
doaj   +1 more source

Identification of Novel Interacting Proteins of FUZ and GPR161

PROTEOMICS, EarlyView.
ABSTRACT Protein–protein interactions are central to the dynamic regulation of signaling pathways and provide critical insight into the cellular mechanisms underlying human disease. Our previous study demonstrated biochemical and genetic interactions between FUZ and GPR161 in sonic hedgehog signaling during spinal neural tube development. In this study,
Gabriella Salazar, Anna Battenhouse, Andrew J. Kim, Sung‐Eun Kim   +3 more
wiley   +1 more source