Results 41 to 50 of about 9,217 (165)

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

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

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

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

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

Roles of Primary Cilia in the Developing Brain

Frontiers in Cellular Neuroscience, 2019
Essential to development, primary cilia are microtubule-based cellular organelles that protrude from the surface of cells. Acting as cellular antenna, primary cilia play central roles in transducing or regulating several signaling pathways, including ...
Sang Min Park, Hee Jin Jang, Jeong Ho Lee, Jeong Ho Lee   +3 more
doaj   +1 more source

Strain-Dependent Modifier Genes Determine Survival in Zfp423 Mice

G3: Genes, Genomes, Genetics, 2020
Zfp423 encodes a transcriptional regulatory protein that interacts with canonical signaling and lineage pathways. Mutations in mouse Zfp423 or its human ortholog ZNF423 are associated with a range of developmental abnormalities reminiscent of ...
Wendy A. Alcaraz, Zheng Liu, Phoebe Valdes, Edward Chen, Alan G. Valdovino Gonzalez, Shelby Wade, Cinny Wong, Eunnie Kim, Hsiang-Hua M. Chen, Alison Ponn, Dorothy Concepcion, Bruce A. Hamilton   +11 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

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

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, EarlyView.
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