High incidence and geographic distribution of cleft palate in Finland are associated with the IRF6 gene

F Rahimov, P Nieminen, P Kumari, E Juuri… - Nature …, 2024 - nature.com
In Finland, the frequency of isolated cleft palate (CP) is higher than that of isolated cleft lip
with or without cleft palate (CL/P). This trend contrasts to that in other European countries but …

[PDF][PDF] Review on the Role of IRF6 in the Pathogenesis of Non-syndromic Orofacial Clefts

S Di Zhang, Y You, ML Yao, B Shi… - The Chinese journal of …, 2024 - cjdr.cndent.com
Non-syndromic orofacial clefts (NSOCs) are the most common craniofacial malformation. In
the complex aetiology and pathogenesis of NSOCs, genetic factors play a crucial role and …

[HTML][HTML] Breast Cancer Stem Cells Upregulate IRF6 in Stromal Fibroblasts to Induce Stromagenesis

H Muralidharan, T Hansen, A Steinle, D Schumacher… - Cells, 2024 - mdpi.com
The microenvironment of a cancer stem cell (CSC) niche is often found in coexistence with
cancer-associated fibroblasts (CAFs). Here, we show the first in-depth analysis of the …

Immortalization of patient-derived lip cells for establishing 3D lip models

F Mansour, L Parisi, S Rihs, I Schnyder… - Frontiers in Cell and …, 2024 - frontiersin.org
Introduction The lips fulfill various critical physiological roles besides being viewed as a
fundamental aesthetic feature contributing to the perception of health and beauty. Therefore …

Consistent downregulation of the cleft lip/palate-associated genes IRF6 and GRHL3 in carcinomas

L Parisi, C Mockenhaupt, S Rihs, F Mansour… - Frontiers in …, 2022 - frontiersin.org
Interferon Regulatory Factor 6 (IRF6) and Grainyhead Like Transcription Factor 3 (GRHL3)
are transcription factors that orchestrate gene regulatory networks required for the balance …

Reflecting the human lip in vitro: Cleft lip skin and mucosa keratinocytes keep their identities

S Rihs, L Parisi, A Lauener, F Mansour… - Oral …, 2024 - Wiley Online Library
Objectives Cell models have shown great promise as tools for research, potentially
providing intriguing alternatives to animal models. However, the original tissue …

Simultaneous occurrence of hypospadias and bilateral cleft lip and jaw in a crossbred calf: Clinical, computer tomographic, and genomic characterization

S Marc, AE Mizeranschi, C Paul, G Otavă, J Savici… - Animals, 2023 - mdpi.com
Simple Summary Congenital abnormalities in animals are a major concern for breeders due
to the increased economic loss they entail. The aim of this article was to describe a …

High incidence and geographic distribution of cleft palate cases in Finland are associated with a regulatory variant in IRF6

F Rahimov, P Nieminen, P Kumari, E Juuri… - medRxiv, 2024 - medrxiv.org
In Finland the frequency of isolated cleft palate (CP) is higher than that of isolated cleft lip
with or without cleft palate (CL/P). This trend contrasts to that in other European countries but …

Association between variants around IRF6 and non‐syndromic orofacial cleft in Western Han Chinese

S Zhang, Q Chen, C Yang, J Shi, Y Lin, S Duan… - Oral …, 2023 - Wiley Online Library
Objectives Considering limitations of previous studies and differences across populations
and subtypes, this study aimed to identify new potential SNPs around IRF6 associated with …

Neural crest and periderm-specific requirements of Irf6 during neural tube and craniofacial development

SH Carroll, S Schafer, E Dalessandro, TV Ho, Y Chai… - …, 2024 - pmc.ncbi.nlm.nih.gov
IRF6 is a key genetic determinant of syndromic and non-syndromic cleft lip and palate. The
ability to interrogate post-embryonic requirements of Irf6 has been hindered, as global Irf6 …