Results 91 to 100 of about 390,574 (294)

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

Brazil's Craniofacial Project: Genetic evaluation and counseling in the Reference Network for Craniofacial Treatment

, 2015
Objective: This study is part of Brazil's Craniofacial Project, which is the first initiative for a national characterization of craniofacial healthcare in Brazil.
Gil-da-Silva-Lopes, Vera Lúcia, Monlleó, Isabella Lopes, Monlleo, IL, Gil-Da-Silva-Lopes, VL   +3 more
core   +1 more source

A case report describing insights into the imaging of Apert syndrome

Rare
Apert syndrome is a rare congenital autosomal dominant acrocephalosyndactyly type I syndrome which manifests in the form of various craniofacial, skeletal, and visceral anomalies.
Diksha Goyal, Poonam Sherwani
doaj   +1 more source

Deletion of the Pyrophosphate Generating Enzyme ENPP1 Rescues Craniofacial Abnormalities in the TNAP^-/- Mouse Model of Hypophosphatasia and Reveals FGF23 as a Marker of Phenotype Severity. [PDF]

Front Dent Med, 2022
Nam HK, Emmanouil E, Hatch NE.
europepmc   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Pyogenic Granuloma on the Upper Lip: A Rare Location

, 2017
Department of Surgery and Integrated Clinic Araçatuba Dental School University Estadual Paulista - UNESPDepartment of Prostodonthics Hospital for Rehabilitation of Craniofacial Anomalies - HRACDepartment of Stomatology Bauru Dental School São Paulo ...
Garcia, Bruna Trofino, De Assis Taveira, Luis Antonio, Mulinari-Santos, Gabriel [UNESP], Mulinari-Santos, Gabriel   +3 more
core   +1 more source

Decoding the Orofacial Phenotype of Mucopolysaccharidosis: From Clinical Features to Dental Implications—A Narrative Review

Oral
Mucopolysaccharidoses (MPSs) are rare inherited lysosomal storage disorders in which impaired glycosaminoglycan degradation triggers a complex cascade of cellular and tissue changes with multisystemic consequences.
Denis Clay Lopes dos Santos, Ana Cristina Borges-Oliveira, Mateus Ferreira Lopes, Matheus Cezário, Carlos José de Paula Silva, Sérgio Lúcio Pereira de Castro Lopes, Andre Luiz Ferreira Costa   +6 more
doaj   +1 more source

Intercellular Genetic Interaction Between Irf6 and Twist1 during Craniofacial Development

Scientific Reports, 2017
Interferon Regulatory Factor 6 (IRF6) and TWIST1 are transcription factors necessary for craniofacial development. Human genetic studies showed that mutations in IRF6 lead to cleft lip and palate and mandibular abnormalities.
Walid D. Fakhouri, Kareem Metwalli, Ali Naji, Sarah Bakhiet, Angela Quispe-Salcedo, Larissa Nitschke, Youssef A. Kousa, Brian C. Schutte   +7 more
doaj   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

Developmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard, Lauren Clarissa Tang, Beatrix Ueberheide, Lisa A. Taneyhill   +3 more
wiley   +1 more source