Results 101 to 110 of about 6,776,369 (200)

Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses [PDF]

, 2017
Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial development is dependent upon a multipotent, migratory population of neural crest cells ...
Aoto, Aylsworth, Bernier, Beygo, Bhat, Bowman, Chakraborty, Chemke, Ciccia, Conley, Czeschik, Dai, Dai, Dauwerse, Deml, Devotta, Dixon, Dixon, Dixon, Dixon, Dixon, Dixon, Dixon, Edwards, Edwards, Fang, Fang, Fazen, Frisdal, Garden, Gladwin, Gonzales, Guion-Almeida, Hail, Hall, Haupt, Hayano, Isaac, Jones, Jones, Kennedy, Komarov, Kuo, Larsen, Lau, Le Douarin, Levine, Lin, Lohrum, Luquetti, Marechal, Marres, Marsh, Masotti, Miller, Ng, Noack Watt, Noden, Nur, Petit, Phelps, Poswillo, Rainger, Richter, Robert, Rovin, Sagar, Sakai, Sakai, Saudi Mendeliome, So RB, Splendore, Splendore, Splendore, Teber, The Treacher Collins Syndrome Collaborative Group, Toledo, Trainor, Trainor, Trainor, Trainor, Trainor, Trainor, Valdez, Vincent, Watanabe, Weaver, Werner, White, Winokur, Wise, Xue, Yao   +92 more
core   +1 more source

Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort

The Laryngoscope, Volume 134, Issue 8, Page 3832-3838, August 2024.
This study assessed the prevalence of genetic variants associated with hearing loss in a large cohort of children. A total of 485 children underwent genetic testing, which identified 923 variants, most of which were of uncertain significance. A genetic cause of hearing loss was found in 15% of children which is lower than typically reported.
Emily R. Wener, Jacob D. McLennan, Blake C. Papsin, Sharon L. Cushing, Dimitri James Stavropoulos, Roberto Mendoza‐Londono, Nada Quercia, Karen A. Gordon   +7 more
wiley   +1 more source

The restitution of an oxalate-damaged epithelium [PDF]

, 2021
The renal inner medulla is responsible for the hydro-saline equilibrium maintenance through water and electrolyte excretionin urine. The collecting ducts, which are involved in the urine concentration, are immersed in an extracellular matrix with ...
Casali, Cecilia Irene, Fernández Tomé, M. C., Pescio, Lucila Gisele, Sendyk, Dylan   +3 more
core  

A Novel Amino Acid‐Related Gene Signature Predicts Overall Survival in Patients With Hepatocellular Carcinoma

Cancer Reports, Volume 7, Issue 7, July 2024.
ABSTRACT Background and Aims Hepatocellular carcinoma (HCC) is an extremely harmful malignant tumor in the world. Since the energy metabolism and biosynthesis of HCC cells are closely related to amino acids, it is necessary to further explore the relationship between amino acid‐related genes and the prognosis of HCC to achieve individualized treatment.
Shuyi Wang, Hong Huang, Xingwang Hu, Meifang Xiao, Kaili Yang, Haiyan Bu, Yupeng Jiang, Zebing Huang   +7 more
wiley   +1 more source

Comparative analysis of genetic testing utilization rates among people with and without disabilities in South Korea from 2016 to 2019, focusing on malignant neoplasms: A national population‐based study

Cancer Medicine, Volume 13, Issue 9, May 2024.
Abstract Introduction Oncogene testing is widely used to detect or direct cancer treatments. Compared to people without disabilities, people with disabilities in Korea have a lower cancer incidence rate but a fivefold higher cancer mortality rate, implying delayed detection.
Gwanwook Bang, Minji Park, Jeong‐yeon Seon, So‐Youn Park   +3 more
wiley   +1 more source

Microtia: A Combined Approach by Genetics and Audiology

The Egyptian Journal of Otolaryngology, 2016
En Abstract Introduction Microtia is a condition in which the external portion of the ear (the auricle) is malformed. In the strictest definition, there is also narrowing or absence of the external auditory canal (external auditory meatus).
Elham El-Saiid, Salwa Mahmoud, Hoda Abu Moussa, Nagwa Meguid, Ehab Ragaa   +4 more
doaj   +1 more source

Aurora at the pole and equator: overlapping functions of Aurora kinases in the mitotic spindle [PDF]

, 2013
The correct assembly and timely disassembly of the mitotic spindle is crucial for the propagation of the genome during cell division. Aurora kinases play a central role in orchestrating bipolar spindle establishment, chromosome alignment and segregation.
Hegarat, N., Hochegger, H., Pereira-Leal, J. B.   +2 more
core   +1 more source

Animal models for studying neural crest development: is the mouse different? [PDF]

, 2015
The neural crest is a uniquely vertebrate cell type and has been well studied in a number of model systems. Zebrafish, Xenopus and chick embryos largely show consistent requirements for specific genes in early steps of neural crest development.
Barriga, Elias H., Bronner, Marianne, Mayor, Roberto, Trainor, Paul A.   +3 more
core  

Associations between variants of FADS genes and omega-3 and omega-6 milk fatty acids of Canadian Holstein cows [PDF]

, 2014
BACKGROUND: Fatty acid desaturase 1 (FADS1) and 2 (FADS2) genes code respectively for the enzymes delta-5 and delta-6 desaturases which are rate limiting enzymes in the synthesis of polyunsaturated omega-3 and omega-6 fatty acids (FAs). Omega-3 and-6 FAs
Eveline M Ibeagha-Awemu, Frédéric Beaudoin, Kingsley A Akwanji, Xin Zhao   +3 more
core   +1 more source

Alcohol exposure induces chick craniofacial bone defects by negatively affecting cranial neural crest development [PDF]

, 2017
Excess alcohol consumption during pregnancy could lead to fetal alcohol syndrome (FAS). However, the molecular mechanism leading to craniofacial abnormality, a feature of FAS, is still poorly understood.
Chuai, Manli, Lee, Kenneth Ka Ho, Lin, Zhuangling, Liu, Meng, Wang, Guang, Wu, Yushi, Yang, Xuesong, Zhang, Jing, Zhang, Ping   +8 more
core   +2 more sources