Results 91 to 100 of about 34,364 (292)
A Child with Roberts Syndrome: A Case Report
Nepal Journal of Neuroscience, 2017 Roberts syndrome is a genetically determined rare birth defect causing, skeletal deformities, particularly symmetrical limb reduction and craniofacial anomalies.
Rajan K Sharma +3 more
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
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
Mouse resources for craniofacial research.
, 2011 The mouse, as a genetically defined and easily manipulated model organism, has played a critical role in unraveling the mechanisms of craniofacial development and dysmorphology. While numerous gene knockout strains that display craniofacial abnormalities
Murray, Stephen A, Stephen A. Murray
core +1 more source
Developmental Dynamics, EarlyView.Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser +5 more
wiley +1 more source
Rwanda Medical Journal, 2022 INTRODUCTION: Although Treacher-Collins syndrome has to be considered a differential diagnosis in congenital craniofacial abnormalities, the clinical diagnosis and research related to it still present a gap, especially in African regions.
B. Tuyishimire +7 more
doaj
Analysis of craniofacial defects in Six1/Eya1-associated Branchio-Oto-Renal Syndrome [PDF]
, 2013 Branchio-Oto-Renal (BOR) syndrome patients exhibit craniofacial and renal anomalies as well as deafness. BOR syndrome is caused by mutations in Six1 or Eya1, both of which regulate cell proliferation and differentiation.
Wong, EYM +4 more
core
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley +1 more source
A Case of Complex Facial Clefts Treated with Staged-tissue Expansion
Plastic and Reconstructive Surgery, Global Open, 2014 Summary: Craniofacial clefts involve all soft tissue and skeletal elements throughout the cleft. Usefulness of tissue expansion in craniofacial clefts is reported.
Koichi Ueda, MD, PhD +4 more
doaj +1 more source
The role of Rho GTPases in facial morphogenesis
Developmental Dynamics, EarlyView.The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley +1 more source