[HTML][HTML] Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities

C Bidinost, M Matsumoto, D Chung… - … & visual science, 2006 - arvojournals.org
purpose. The PITX3 gene, which codes for a homeobox bicoidlike transcription factor is
responsible for dominant cataract and anterior segment mesenchymal dysgenesis in …

A novel PITX2 mutation in non‐syndromic orodental anomalies

N Intarak, T Theerapanon, C Ittiwut… - Oral …, 2018 - Wiley Online Library
Objective To identify orodental characteristics and genetic aetiology of a family affected with
non‐syndromic orodental anomalies. Subjects and Methods Physical and oral features were …

Differential expression and functional analysis of Pitx2 isoforms in regulation of heart looping in the chick

X Yu, TRS Amand, S Wang, G Li, Y Zhang… - …, 2001 - journals.biologists.com
Pitx2, a bicoid-related homeobox gene, plays a crucial role in the left-right axis
determination and dextral looping of the vertebrate developing heart. We have examined the …

Conserved Function of Caenorhabditis elegansUNC-30 and Mouse Pitx2 in Controlling GABAergic Neuron Differentiation

JJ Westmoreland, J McEwen, BA Moore… - Journal of …, 2001 - Soc Neuroscience
We are taking a cross-species approach to identify genes that are required for mammalian
GABAergic neuron differentiation. On the basis of homeodomain similarity, the vertebrate …

[HTML][HTML] Teaching an old dog new tricks: reactivated developmental signaling pathways regulate ABCB1 and chemoresistance in cancer

WK Lee, T Frank - Cancer Drug Resistance, 2021 - ncbi.nlm.nih.gov
Oncogenic multidrug resistance (MDR) is a multifactorial phenotype intimately linked to
deregulated expression of detoxification transporters. Drug efflux transporters, particularly …

Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent …

O McKenzie, I Ponte, M Mangelsdorf, M Finnis… - Neuroscience, 2007 - Elsevier
Aristaless-related homeobox gene (ARX) is an important paired-type homeobox gene
involved in the development of human brain. The ARX gene mutations are a significant …

Craniofacial and dental features of Axenfeld‐Rieger syndrome patients with PITX2 mutations

S Arte, M Pöyhönen, E Myllymäki… - Orthodontics & …, 2023 - Wiley Online Library
We aimed to characterize the genetic basis and craniofacial and dental features of Finnish
patients with Axenfeld‐Rieger syndrome (ARS). Mutational analyses of seven patients in five …

A pituitary homeobox 2 (Pitx2): microRNA-200a-3p: β-catenin pathway converts mesenchymal cells to amelogenin-expressing dental epithelial cells

T Sharp, J Wang, X Li, H Cao, S Gao, M Moreno… - Journal of Biological …, 2014 - ASBMB
Pitx2, Wnt/β-catenin signaling, and microRNAs (miRs) play a critical role in the regulation of
dental stem cells during embryonic development. In this report, we have identified a Pitx2: β …

PITX2 isoform-specific regulation of atrial natriuretic factor expression: synergism and repression with Nkx2. 5

M Ganga, HM Espinoza, CJ Cox, L Morton… - Journal of Biological …, 2003 - ASBMB
PITX2 and Nkx2. 5 are two of the earliest known transcriptional markers of vertebrate heart
development. Pitx2–/–mice present with severe cardiac malformations and embryonic …

Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome

RA Norris, KK Scott, CS Moore, G Stetten, CR Brown… - Mammalian …, 2000 - Springer
In this study, we extend our examination of the function of the Prrx1 (aka Mhox, Prx1, K-2,
and Pmx1) as well as Prrx2 (aka S8 and Prx2) genes by characterizing the expression of the …