Results 81 to 90 of about 76,690 (303)

Mutations affecting craniofacial development in zebrafish [PDF]

, 1996
In a large-scale screen for mutations affecting embryogenesis in zebrafish, we identified 48 mutations in 34 genetic loci specifically affecting craniofacial development. Mutants were analyzed for abnormalities in the cartilaginous head skeleton. Further,
Zwartkruis, F., Neuhauss, S.C., Schier, A.F., Stemple, D.L., Abdelilah, S., Solnica-Krezel, L., Malicki, J., Driever, W., Stainier, D.Y.   +8 more
core   +2 more sources

Therapeutic potency and the related mechanism of deinoxanthin in experimental animal and cell models of periodontitis

Scientific Reports
Periodontitis is a chronic inflammatory disease that leads to the destruction of periodontal tissue, ultimately resulting in tooth loss. Studies have aimed to develop biomaterials that effectively prevent inflammatory responses and oxidative stress in ...
Govinda Bhattarai, Yu-Hyeon An, Saroj Kumar Shrestha, Shankar Rijal, Seung-Moon Park, Sung-Ho Kook, Jeong-Chae Lee, Young-Mi Jeon   +7 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

The Biology of occlusal development : proceedings of a sponsored symposium honoring Professor Robert E. Moyers, held March 4 and 5, 1977, in Ann Arbor, Michigan

, 1977
http://babel.hathitrust.org/cgi/pt?id=mdp.39015006436292;view=2up;ui=fullscreen#page/n0/mode ...
Symposium on Craniofacial Growth
core  

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Anti-angiogenic effects of VEGF stimulation on endothelium deficient in phosphoinositide recycling

Nature Communications, 2020
Tumors can overproduce pro-angiogenic ligands overcoming currently approved anti-angiogenic therapies and hindering their success. Here, the authors show that targeting phosphoinositide recycling during tumor angiogenesis harnesses the tumor’s own ...
Amber N. Stratman, Olivia M. Farrelly, Constantinos M. Mikelis, Mayumi F. Miller, Zhiyong Wang, Van N. Pham, Andrew E. Davis, Margaret C. Burns, Sofia A. Pezoa, Daniel Castranova, Joseph J. Yano, Tina M. Kilts, George E. Davis, J. Silvio Gutkind, Brant M. Weinstein   +14 more
doaj   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Dental Approach to Craniofacial Syndromes: How Can Developmental Fields Show Us a New Way to Understand Pathogenesis?

International Journal of Dentistry, 2012
The paper consists of three parts. Part 1: Definition of Syndromes. Focus is given to craniofacial syndromes in which abnormal traits in the dentition are associated symptoms.
Inger Kjær
doaj   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

Bone Reports
There is a wide spectrum of craniofacial bone disorders and dysplasias because embryological development of the craniofacial region is complex. Classification of craniofacial bone disorders and dysplasias is also complex because they exhibit complex ...
Sunday O. Akintoye, Akinyele O. Adisa, Chukwubuzor U. Okwuosa, Mel Mupparapu   +3 more
doaj   +1 more source