Results 101 to 110 of about 2,358 (194)

Characterizing disease states from topological properties of transcriptional regulatory networks [PDF]

, 2006
Background High throughput gene expression experiments yield large amounts of data that can augment our understanding of disease processes, in addition to classifying samples.
Kluger Harriet M, Tuck David P, Kluger Yuval   +2 more
core   +1 more source

The Role of Mutations on Gene TCOF1, in Treacher Collins Syndrome

American Journal of Surgery and Clinical Case Reports, 2021
Asadi S, Zarei Y, Housseini HS, Jamshidi PJ   +3 more
openaire   +1 more source

Predicting the potential associations between circRNA and drug sensitivity using a multisource feature‐based approach

Journal of Cellular and Molecular Medicine, Volume 28, Issue 19, October 2024.
Abstract The unique non‐coding RNA molecule known as circular RNA (circRNA) is distinguished from conventional linear RNA by having a longer half‐life, greater degree of conservation and inherent solidity. Extensive research has demonstrated the profound impact of circRNA expression on cellular drug sensitivity and therapeutic efficacy.
Shuaidong Yin, Peng Xu, Yefeng Jiang, Xin Yang, Ye Lin, Manyu Zheng, Jinpeng Hu, Qi Zhao   +7 more
wiley   +1 more source

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
Katherine J. K. Patterson, John M. Graham Jr, Natalie D. Shaw   +2 more
wiley   +1 more source

BMS1 Is Mutated in Aplasia Cutis Congenita [PDF]

, 2013
Aplasia cutis congenita (ACC) manifests with localized skin defects at birth of unknown cause, mostly affecting the scalp vertex. Here, genome-wide linkage analysis and exome sequencing was used to identify the causative mutation in autosomal dominant ...
Marneros, Alexander G.
core   +2 more sources

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

Rapid generation of hypomorphic mutations [PDF]

, 2017
Hypomorphic mutations are a valuable tool for both genetic analysis of gene function and for synthetic biology applications. However, current methods to generate hypomorphic mutations are limited to a specific organism, change gene expression ...
Arthur, Laura L, Chalker, Douglas L, Chung, Joyce J, Djuranovic, Sergej, Grbic, Vojislava, Green, Rachel, Jankirama, Preetam, Keefer, Kathryn M, Kolotilin, Igor, Menassa, Rima, Pavlovic-Djuranovic, Slavica, Skeath, James B, true, Heather L   +12 more
core   +2 more sources

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  

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

[TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2023
Li Y, Chi W, Lin K, Zu J, Shao H, Mao Z, Chen Q, Ma J.   +7 more
europepmc   +1 more source