Results 111 to 120 of about 19,461 (219)

Waardenburg syndrome type I: dental phenotypes and genetic analysis of an extended family [PDF]

, 2016
Background: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations ...
Aquino, Sibele Nascimento de, Cardoso, Aline-Francoise, Della Coletta, Ricardo, Frota, Ana-Cláudia, Gomes, Andreia, Martelli Júnior, Hercílio, Paranaíba, Lívia M. R., Santos Neto, Pedro Eleutério dos, Solia-Nasser, Luciano   +8 more
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Expression patterns of FSHD-causing DUX4 and myogenic transcription factors PAX3 and PAX7 are spatially distinct in differentiating human stem cell cultures

Skeletal Muscle, 2017
Background Facioscapulohumeral muscular dystrophy (FSHD) is most commonly inherited in an autosomal dominant pattern and caused by the abnormal expression of DUX4 in skeletal muscle.
Premi Haynes, Kelly Kernan, Suk-Lin Zhou, Daniel G. Miller   +3 more
doaj   +1 more source

Core promoter short tandem repeats as evolutionary switch codes for primate speciation [PDF]

, 2015
Alteration in gene expression levels underlies many of the phenotypic differences across species. Because of their highly mutable nature, proximity to the +1 transcription start site (TSS), and the emerging evidence of functional impact on gene ...
Bagheri, A., Darvish, H., Ghadimi-Haddadan, S., Kazeminasab, S., Kowsari, A., Namdar-Aligoodarzi, P., Ohadi, M., Rezazadeh, M., Valipour, E.   +8 more
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How TGF‐β and PAX3 regulate suntanning [PDF]

Pigment Cell & Melanoma Research, 2009
The processes by which ultraviolet(UV) radiation induces melanin synthe-sis to induce a suntan is complex,involving signaling between keratino-cytes and melanocytes. Although muchis known about the enzymes involved inmelanin production, there have beengaps in understanding how key tran-scriptional regulators of melanogenesisare regulated.
openaire   +2 more sources

Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome

Molecular Genetics & Genomic Medicine, 2020
Background The objective of this study was to investigate the genetic causes of two probands diagnosed as Waardenburg syndrome (WS type I and IV) from two unrelated Chinese families. Methods PAX3 and SOX10 were the main pathogenic genes for WS type I (WS
Yongbo Yu, Wei Liu, Min Chen, Yang Yang, Yeran Yang, Enyu Hong, Jie Lu, Jun Zheng, Xin Ni, Yongli Guo, Jie Zhang   +10 more
doaj   +1 more source

Competence, specification and commitment to an olfactory placode fate [PDF]

, 2008
The nasal placode shares a common origin with other sensory placodes within a pre-placodal domain at the cranial neural plate border. However, little is known about early events in nasal placode development as it segregates from prospective lens, neural ...
Bhattacharyya, Sujata, Bronner-Fraser, Marianne   +1 more
core   +2 more sources

Time-dependent Pax3-mediated chromatin remodeling and cooperation with Six4 and Tead2 specify the skeletal myogenic lineage in developing mesoderm.

PLoS Biology, 2019
The transcriptional mechanisms driving lineage specification during development are still largely unknown, as the interplay of multiple transcription factors makes it difficult to dissect these molecular events.
Alessandro Magli, June Baik, Lauren J Mills, Il-Youp Kwak, Bridget S Dillon, Ricardo Mondragon Gonzalez, David A Stafford, Scott A Swanson, Ron Stewart, James A Thomson, Daniel J Garry, Brian D Dynlacht, Rita C R Perlingeiro   +12 more
doaj   +1 more source

Regulatory landscape fusion in rhabdomyosarcoma through interactions between the PAX3 promoter and FOXO1 regulatory elements

Genome Biology, 2017
Background The organisation of vertebrate genomes into topologically associating domains (TADs) is believed to facilitate the regulation of the genes located within them.
Cristina Vicente-García, Barbara Villarejo-Balcells, Ibai Irastorza-Azcárate, Silvia Naranjo, Rafael D. Acemel, Juan J. Tena, Peter W. J. Rigby, Damien P. Devos, Jose L. Gómez-Skarmeta, Jaime J. Carvajal   +9 more
doaj   +1 more source

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population [PDF]

, 2015
Background: Ventricular septal defects (VSDs) constitute the most prevalent congenital heart disease (CHD), occurs either in isolation (isolated VSD) or in combination with other cardiac defects (complex VSD).
Bailin Wu, Chenxia Nie, Feng Zhang, Guoying Huang, Hongyan Wang, Jia Hou, Li Li, Wenyuan Duan, Xiaoli Chen, Yiming Wu, Yiping Shen, Yonghao Gui, Yu An   +12 more
core   +1 more source

Screening for Novel Genes Contributing to the Transformed Status of Alveolar Rhabdomyosarcoma (ARMS) [PDF]

, 2012
Alveolar rhabdomyosarcoma (ARMS) is the second most common subtype of rhabdomyosarcoma, accounting for approximately 20% of cases. ARMS is associated with the chromosomal translocations t(2;13)(q35;q14) and t(1;13)(p36;q14) resulting in the fusion ...
Picchione, F. (Fabrizio)
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