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349 Results Found

  • Communication
  • Open Access
7 Citations
4,810 Views
10 Pages

R-Spondin 3 Regulates Mammalian Dental and Craniofacial Development

  • Krishnakali Dasgupta,
  • Jeffry M. Cesario,
  • Sara Ha,
  • Kesava Asam,
  • Lindsay J. Deacon,
  • Ana H. Song,
  • Julie Kim,
  • John Cobb,
  • Jeong Kyo Yoon and
  • Juhee Jeong

12 August 2021

Development of the teeth requires complex signaling interactions between the mesenchyme and the epithelium mediated by multiple pathways. For example, canonical WNT signaling is essential to many aspects of odontogenesis, and inhibiting this pathway...

  • Review
  • Open Access
12 Citations
5,578 Views
18 Pages

The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development

  • Thomas E. Forman,
  • Brenna J. C. Dennison and
  • Katherine A. Fantauzzo

27 August 2021

Cranial neural crest (NC) cells delaminate from the neural folds in the forebrain to the hindbrain during mammalian embryogenesis and migrate into the frontonasal prominence and pharyngeal arches. These cells generate the bone and cartilage of the fr...

  • Review
  • Open Access
19 Citations
9,231 Views
13 Pages

Exploring the Intricate Links between Adenotonsillar Hypertrophy, Mouth Breathing, and Craniofacial Development in Children with Sleep-Disordered Breathing: Unraveling the Vicious Cycle

  • Luana Nosetti,
  • Marco Zaffanello,
  • Francesca De Bernardi di Valserra,
  • Daniela Simoncini,
  • Giulio Beretta,
  • Pietro Guacci,
  • Giorgio Piacentini and
  • Massimo Agosti

21 August 2023

Adenotonsillar hypertrophy has been well-acknowledged as the primary instigator of sleep-disordered breathing in the pediatric population. This condition spans a spectrum, from typical age-related growth that the immune system influences to persisten...

  • Article
  • Open Access
2 Citations
3,053 Views
15 Pages

Most human birth defects are phenotypically variable even when they share a common genetic basis. Our understanding of the mechanisms of this variation is limited, but they are thought to be due to complex gene-environment interactions. Loss of the t...

  • Opinion
  • Open Access
7 Citations
4,050 Views
8 Pages

Craniofacial Development Is Fine-Tuned by Sox2

  • Nikolaos Panagiotis Mandalos,
  • Aikaterini Dimou,
  • Maria Angeliki Gavala,
  • Efstathia Lambraki and
  • Eumorphia Remboutsika

31 January 2023

The precise control of neural crest stem cell delamination, migration and differentiation ensures proper craniofacial and head development. Sox2 shapes the ontogeny of the cranial neural crest to ensure precision of the cell flow in the developing he...

  • Review
  • Open Access
1 Citations
2,330 Views
11 Pages

Leveraging Spatial Transcriptomics to Decode Craniofacial Development

  • Jeremie Oliver Piña,
  • Resmi Raju,
  • Aye Chan Myo,
  • Evan Stipano,
  • Malachi Wright and
  • Rena N. D’Souza

3 May 2025

Understanding how intricate cellular networks and signaling pathways communicate during the formation of craniofacial tissues like the palate and tooth has been the subject of intense investigation for several decades. Both organ systems undergo patt...

  • Communication
  • Open Access
11 Citations
5,531 Views
8 Pages

Vitamin D plays essential roles in supporting the skeletal system. The active form of vitamin D functions through the vitamin D receptor (VDR). A hereditary vitamin-D-resistant rickets with facial dysmorphism has been reported, but the involvement of...

  • Article
  • Open Access
17 Citations
5,068 Views
15 Pages

15 October 2022

Cigarette smoking remains the leading cause of preventable death and morbidity worldwide. Smoking during pregnancy is associated with numerous adverse birth outcomes, including craniofacial and behavioral abnormalities. Although tobacco smoke contain...

  • Feature Paper
  • Article
  • Open Access
18 Citations
5,101 Views
14 Pages

The Core Splicing Factors EFTUD2, SNRPB and TXNL4A Are Essential for Neural Crest and Craniofacial Development

  • Byung-Yong Park,
  • Melanie Tachi-Duprat,
  • Chibuike Ihewulezi,
  • Arun Devotta and
  • Jean-Pierre Saint-Jeannet

Mandibulofacial dysostosis (MFD) is a human congenital disorder characterized by hypoplastic neural-crest-derived craniofacial bones often associated with outer and middle ear defects. There is growing evidence that mutations in components of the spl...

  • Review
  • Open Access
49 Citations
17,305 Views
27 Pages

9 September 2020

Craniofacial anomalies are among the most common of birth defects. The pathogenesis of craniofacial anomalies frequently involves defects in the migration, proliferation, and fate of neural crest cells destined for the craniofacial skeleton. Genetic...

  • Article
  • Open Access
3 Citations
2,871 Views
18 Pages

Microtia-atresia is a rare type of congenital craniofacial malformation causing severe damage to the appearance and hearing ability of affected individuals. The genetic factors associated with microtia-atresia have not yet been determined. The AMER1...

  • Review
  • Open Access
46 Citations
14,021 Views
12 Pages

Craniofacial defects (CFD) are a significant healthcare problem worldwide. Understanding both the morphogenetic movements which underpin normal facial development, as well as the molecular factors which regulate these processes, forms the cornerstone...

  • Article
  • Open Access
8 Citations
4,447 Views
14 Pages

Inhibition of Cyclooxygenase-2 Alters Craniofacial Patterning during Early Embryonic Development of Chick

  • Bhaval Parmar,
  • Urja Verma,
  • Kashmira Khaire,
  • Dhanush Danes and
  • Suresh Balakrishnan

A recent study from our lab revealed that the inhibition of cyclooxygenase-2 (COX-2) exclusively reduces the level of PGE2 (Prostaglandin E2) among prostanoids and hampers the normal development of several structures, strikingly the cranial vault, in...

  • Article
  • Open Access
4 Citations
5,837 Views
21 Pages

Acetaminophen Disrupts the Development of Pharyngeal Arch-Derived Cartilage and Muscle in Zebrafish

  • Derrick M. Glasco,
  • Zhidong Wang,
  • Seonwoo Kang and
  • Avery T. Funkhouser

Acetaminophen is a common analgesic, but its potential effects on early embryonic development are not well understood. Previous studies using zebrafish (Danio rerio) have described the effects of acetaminophen on liver development and physiology, and...

  • Article
  • Open Access
8 Citations
2,795 Views
18 Pages

mef2ca and mef2cb Double Mutant Zebrafish Show Altered Craniofacial Phenotype and Motor Behaviour

  • Andreia Adrião,
  • Sara Mariano,
  • José Mariano,
  • Paulo J. Gavaia,
  • M. Leonor Cancela,
  • Marta Vitorino and
  • Natércia Conceição

The transcription factor MEF2C is crucial in neuronal, cardiac, bone and cartilage molecular processes, as well as for craniofacial development. MEF2C was associated with the human disease MRD20, whose patients show abnormal neuronal and craniofacial...

  • Article
  • Open Access
251 Views
24 Pages

Quantification of Craniofacial Growth Pattern Based on Deep Learning

  • Ziyi Hu,
  • Yuyanran Zhang,
  • Ningtao Liu,
  • Xin Gao,
  • Ziyu Huang,
  • Guanglin Wu,
  • Zhiyong Zhang and
  • Shuang Wang

Background: Childhood and adolescence constitute a critical period for craniofacial growth. Understanding its developmental patterns is essential for clinical decision-making in orthodontics and maxillofacial surgery. Traditional cephalometric analys...

  • Review
  • Open Access
13 Citations
22,184 Views
17 Pages

Oral Breathing Effects on Malocclusions and Mandibular Posture: Complex Consequences on Dentofacial Development in Pediatric Orthodontics

  • Dana Feștilă,
  • Cristina Dora Ciobotaru,
  • Tudor Suciu,
  • Cristian Doru Olteanu and
  • Mircea Ghergie

8 January 2025

Background/Objectives: Oral breathing is a common condition, particularly in children, and it is associated with significant changes in craniofacial development, dentomaxillary anomalies, and overall health. Despite extensive research, the role of or...

  • Review
  • Open Access
7 Citations
7,007 Views
22 Pages

Impacts of Development, Dentofacial Disharmony, and Its Surgical Correction on Speech: A Narrative Review for Dental Professionals

  • Christine Bode,
  • Nare Ghaltakhchyan,
  • Erika Rezende Silva,
  • Timothy Turvey,
  • George Blakey,
  • Raymond White,
  • Jeff Mielke,
  • David Zajac and
  • Laura Jacox

28 April 2023

Speech is a communication method found only in humans that relies on precisely articulated sounds to encode and express thoughts. Anatomical differences in the maxilla, mandible, tooth position, and vocal tract affect tongue placement and broadly inf...

  • Review
  • Open Access
20 Citations
8,674 Views
34 Pages

The mandibular and hyoid arches collectively make up the facial skeleton, also known as the viscerocranium. Although all three germ layers come together to assemble the pharyngeal arches, the majority of tissue within viscerocranial skeletal componen...

  • Article
  • Open Access
14 Citations
3,790 Views
18 Pages

Embryonic Exposure to Cigarette Smoke Extract Impedes Skeletal Development and Evokes Craniofacial Defects in Zebrafish

  • Omran Karmach,
  • Joseph V. Madrid,
  • Subham Dasgupta,
  • David C. Volz and
  • Nicole I. zur Nieden

31 August 2022

Exposure to cigarette smoke represents the largest source of preventable death and disease in the United States. This may be in part due to the nature of the delayed harmful effects as well as the lack of awareness of the scope of harm presented by t...

  • Article
  • Open Access
7 Citations
4,549 Views
13 Pages

18 September 2022

Alcohol is a common addictive substance and prenatal alcohol exposure could cause fetal alcohol spectrum disorder (FASD) and can lead to various birth defects. The small teleost zebrafish (Danio rerio) has been identified as a fine animal model in de...

  • Article
  • Open Access
15 Citations
5,439 Views
22 Pages

Null cyp1b1 Activity in Zebrafish Leads to Variable Craniofacial Defects Associated with Altered Expression of Extracellular Matrix and Lipid Metabolism Genes

  • Susana Alexandre-Moreno,
  • Juan-Manuel Bonet-Fernández,
  • Raquel Atienzar-Aroca,
  • José-Daniel Aroca-Aguilar and
  • Julio Escribano

CYP1B1 loss of function (LoF) is the main known genetic alteration present in recessive primary congenital glaucoma (PCG), an infrequent disease characterized by delayed embryonic development of the ocular iridocorneal angle; however, the underlying...

  • Article
  • Open Access
4 Citations
2,038 Views
18 Pages

5 September 2023

The dlx genes encode transcription factors that establish a proximal–distal polarity within neural crest cells to bestow a regional identity during craniofacial development. The expression regions of dlx paralogs are overlapping yet distinct wi...

  • Article
  • Open Access
3 Citations
3,228 Views
15 Pages

The Tumor Suppressor Adenomatous Polyposis Coli (apc) Is Required for Neural Crest-Dependent Craniofacial Development in Zebrafish

  • Xiaolei Liu,
  • William D. Jones,
  • Mathieu Quesnel-Vallières,
  • Sudhish A. Devadiga,
  • Kristin Lorent,
  • Alexander J. Valvezan,
  • Rebecca L. Myers,
  • Ning Li,
  • Christopher J. Lengner and
  • Peter S. Klein
  • + 2 authors

Neural crest (NC) is a unique vertebrate cell type arising from the border of the neural plate and epidermis that gives rise to diverse tissues along the entire body axis. Roberto Mayor and colleagues have made major contributions to our understandin...

  • Review
  • Open Access
12 Citations
5,900 Views
26 Pages

To Stick or Not to Stick: Adhesions in Orofacial Clefts

  • Angelo Antiguas,
  • Brian J. Paul and
  • Martine Dunnwald

18 January 2022

Morphogenesis requires a tight coordination between mechanical forces and biochemical signals to inform individual cellular behavior. For these developmental processes to happen correctly the organism requires precise spatial and temporal coordinatio...

  • Article
  • Open Access
1 Citations
570 Views
17 Pages

23 December 2025

Mandibular prognathism (Class III malocclusion) is a craniofacial anomaly characterized by an anteriorly positioned mandible, a concave facial profile and impaired mastication, and appears unusually frequently in Dolang sheep (Ovis aries). We combine...

  • Review
  • Open Access
6 Citations
3,125 Views
17 Pages

17 August 2023

The hedgehog (Hh) family consists of numerous signaling mediators that play important roles at various stages of development. Thus, the Hh pathway is essential for bone tissue development and tumorigenesis. Gorlin syndrome is a skeletal and tumorigen...

  • Article
  • Open Access
389 Views
10 Pages

28 November 2025

Objectives: The aim of this retrospective cross-sectional study was to compare maxillary sinus volume, the number of surgical interventions, and craniofacial development in patients with unilateral cleft lip and palate (UCLP). The study also sought t...

  • Article
  • Open Access
8 Citations
4,532 Views
13 Pages

22 September 2022

The expression of the col11a1a gene is essential for normal skeletal development, affecting both cartilage and bone. Loss of function mutations have been shown to cause abnormalities in the growth plate of long bones, as well as in craniofacial devel...

  • Review
  • Open Access
3,274 Views
11 Pages

In this review paper, we will evaluate LRP4, a low-density lipoprotein receptor-related protein, and its many roles involving myasthenia gravis (MG), Wnt signaling, bone formation and craniofacial development. In MG, LRP4 is critical to the formation...

  • Article
  • Open Access
1 Citations
606 Views
12 Pages

4 November 2025

Midline facial clefts are severe craniofacial defects that occur due to an underdeveloped frontonasal process. While genetic studies in mice have identified several genes that are crucial for midfacial development, the interactions and regulatory mec...

  • Article
  • Open Access
671 Views
12 Pages

Prevalence and Predictive Factors of Angle’s Class Malocclusion Asymmetries Without Crossbite in Primary School Children: A Cross-Sectional Study

  • Marolita Orazi,
  • Maria Grazia Cagetti,
  • Lucia Giannini,
  • Niccolò Cenzato and
  • Cinzia Maria Norma Maspero

1 November 2025

Background: Angle’s dental class asymmetries not associated with crossbite are malocclusions that are often underestimated in pediatric patients. However, they may be associated with alterations in the development of the stomatognathic system....

  • Hypothesis
  • Open Access
1 Citations
960 Views
17 Pages

Background: Craniofacial malformations lie at the heart of fetal alcohol spectrum disorders (FASDs). While there is growing evidence for a genetic component in FASDs, little is known of the cellular mechanisms underlying these ethanol-sensitive loci...

  • Article
  • Open Access
1 Citations
1,016 Views
14 Pages

11 July 2025

Any failure in frontonasal development can lead to malformations at the middle facial region, such as frontonasal dysplasia, midfacial clefts, and hyper/hypotelorism. Various environmental factors influence morphogenesis through epigenetic regulation...

  • Article
  • Open Access
175 Views
13 Pages

Toward Understanding the Role of miRNAs in Cleft Palate Only: Observations from Patient Tissues and In Vitro Assays

  • Annalisa Palmieri,
  • Luca Scapoli,
  • Agnese Pellati,
  • Federico Apolloni,
  • Valerio Zanchi,
  • Giuseppe Spinelli,
  • Rossella Sgarzani,
  • Francesco Carinci and
  • Marcella Martinelli

24 February 2026

Cleft palate only (CPO) is a multifactorial craniofacial malformation with significant genetic and epigenetic contributions. Among these, microRNAs (miRNAs) have emerged as key regulators of palate development, although their alterations in CPO remai...

  • Article
  • Open Access
12 Citations
5,980 Views
17 Pages

Craniofacial Analysis May Indicate Co-Occurrence of Skeletal Malocclusions and Associated Risks in Development of Cleft Lip and Palate

  • Denise K. Liberton,
  • Payal Verma,
  • Konstantinia Almpani,
  • Peter W. Fung,
  • Rashmi Mishra,
  • Snehlata Oberoi,
  • Figen Ç. Şenel,
  • James K. Mah,
  • John Huang and
  • Janice S. Lee
  • + 1 author

28 January 2020

Non-syndromic orofacial clefts encompass a range of morphological changes affecting the oral cavity and the craniofacial skeleton, of which the genetic and epigenetic etiologic factors remain largely unknown. The objective of this study is to explore...

  • Opinion
  • Open Access
2 Citations
4,307 Views
14 Pages

Open Mouth Posture Syndrome (OMPS): Classification

  • Can-Florian Keleş,
  • David Morais,
  • Anand Marya,
  • Omar Fawzi Chawshli,
  • Adith Venugopal and
  • Ute Ulrike Botzenhart

21 May 2025

Objectives: This narrative review aims to redefine Open Mouth Posture Syndrome (OMPS) as a multifactorial condition with overlapping symptoms and a cyclical pathophysiology. A novel classification system for OMPS subtypes is proposed to standardize r...

  • Article
  • Open Access
17 Citations
4,016 Views
18 Pages

Wnt signaling regulates cell fate decisions in diverse contexts during development, and loss of Wnt signaling in the cranial mesenchyme results in a robust and binary cell fate switch from cranial bone to ectopic cartilage. The Extracellular signal-r...

  • Article
  • Open Access
2 Citations
2,586 Views
14 Pages

Frontonasal malformations are caused by a failure in the growth of the frontonasal prominence during development. Although genetic studies have identified genes that are crucial for frontonasal development, it remains largely unknown how these genes...

  • Article
  • Open Access
1 Citations
1,854 Views
21 Pages

Alternative Balance between Transcriptional and Epigenetic Regulation during Developmental Proliferation of Human Cranial Neural Crest Cells

  • Christophe Desterke,
  • Raquel Francés,
  • Claudia Monge,
  • Agnès Marchio,
  • Pascal Pineau and
  • Jorge Mata-Garrido

30 September 2024

Cranial neural crest cells are implicated in multiple transcriptional events at the different stages of differentiation during development. The alteration of some transcription factors expressed during neural crest development, like PAX7, could be im...

  • Article
  • Open Access
1,763 Views
15 Pages

Mouth Breathing and Orthodontic Referral in Pediatric Practice: A Cross-Sectional Survey

  • Tulca Büyükpatır Türk,
  • Barış Erkut Türk and
  • Yeşim Kaya

17 June 2025

Objectives: Mouth breathing in children may lead to craniofacial anomalies such as maxillary constriction. Pediatricians play a crucial role in recognizing early signs and making timely referrals. This study aimed to evaluate the awareness of pediatr...

  • Article
  • Open Access
5 Citations
1,292 Views
18 Pages

Effects of AMCOP® Elastodontic Devices on Skeletal Divergence and Airway Dimensions in Growing Patients

  • Gianna Dipalma,
  • Alessio Danilo Inchingolo,
  • Filippo Cardarelli,
  • Antonio Di Lorenzo,
  • Fabio Viapiano,
  • Laura Ferrante,
  • Francesco Inchingolo,
  • Daniela Di Venere,
  • Andrea Palermo and
  • Angelo Michele Inchingolo
  • + 1 author

27 July 2025

Objectives: This study aimed to evaluate the effects of AMCOP® elastodontic appliances on cephalometric parameters of skeletal divergence and upper airway dimensions in growing patients, comparing treated individuals with an untreated control gro...

  • Article
  • Open Access
13 Citations
3,595 Views
14 Pages

Characterization of SIBLING Proteins in the Mineralized Tissues

  • Sandeep Dab,
  • Nancy Abdelhay,
  • Carlos Alberto Figueredo,
  • Seema Ganatra and
  • Monica Prasad Gibson

4 August 2022

The SIBLING proteins are a family of non-collagenous proteins (NCPs) previously thought to be expressed only in dentin but have been demonstrated in other mineralized and non-mineralized tissues. They are believed to play vital roles in both osteogen...

  • Review
  • Open Access
19 Citations
5,166 Views
19 Pages

Cranial Base Synchondrosis: Chondrocytes at the Hub

  • Shawn A. Hallett,
  • Wanida Ono,
  • Renny T. Franceschi and
  • Noriaki Ono

The cranial base is formed by endochondral ossification and functions as a driver of anteroposterior cranial elongation and overall craniofacial growth. The cranial base contains the synchondroses that are composed of opposite-facing layers of restin...

  • Article
  • Open Access
6 Citations
3,437 Views
10 Pages

Cranial Base Synchondrosis Lacks PTHrP-Expressing Column-Forming Chondrocytes

  • Shawn A. Hallett,
  • Annabelle Zhou,
  • Curtis Herzog,
  • Ariel Arbiv,
  • Wanida Ono and
  • Noriaki Ono

The cranial base contains a special type of growth plate termed the synchondrosis, which functions as the growth center of the skull. The synchondrosis is composed of bidirectional opposite-facing layers of resting, proliferating, and hypertrophic ch...

  • Review
  • Open Access
20 Citations
5,766 Views
17 Pages

10 February 2023

Cleft lip and palate is one of the most common congenital birth defects and has a complex etiology. Either genetic or environmental factors, or both, are involved at various degrees, and the type and severity of clefts vary. One of the longstanding q...

  • Case Report
  • Open Access
6 Citations
15,418 Views
10 Pages

Arrested Pneumatization of the Sphenoid Sinus on Large Field-of-View Cone Beam Computed Tomography Studies

  • Mehrnaz Tahmasbi-Arashlow,
  • Sevin Barghan,
  • Jeffrey Bennett,
  • Rujuta A. Katkar and
  • Madhu K. Nair

11 May 2015

Arrested pneumatization of the sphenoid sinus is a normal anatomical variant. The aim of this report is to define cone beam computed tomography (CBCT) characteristics of arrested pneumatization of sphenoid sinus in an effort to help differentiate it...

  • Article
  • Open Access
11 Citations
3,220 Views
12 Pages

Phenytoin Inhibits Cell Proliferation through microRNA-196a-5p in Mouse Lip Mesenchymal Cells

  • Hiroki Yoshioka,
  • Sai Shankar Ramakrishnan,
  • Akiko Suzuki and
  • Junichi Iwata

9 February 2021

Cleft lip (CL) is one of the most common birth defects. It is caused by either genetic mutations or environmental factors. Recent studies suggest that environmental factors influence the expression of noncoding RNAs [e.g., microRNA (miRNA)], which ca...

  • Article
  • Open Access
8 Citations
4,603 Views
17 Pages

5 September 2019

We have previously observed the predominant expression of nucleoporin 62-like (Nup62l) mRNA in the pharyngeal region of zebrafish, which raises the question whether Nup62l has important implications in governing the morphogenesis of pharyngeal arches...

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