OSCR

Rare variants in FAT3 as possible contributors to non-syndromic orofacial cleft risk.

Overview

Authors: Qianying Kong1,2,3,4, Chunhui Qi1, Qian Zhao1,2,3,4, Huifang Peng1, Yanying Dong5, Hongwei Jiang1, Xuechen Zhu2,3,4
  1. Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003 China
  2. State Key Laboratory of Female Fertility Promotion, Department of Human Anatomy, Histology and Embryology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, 100191 China
  3. Department of Pediatrics, Children’s Medical Center, Peking University First Hospital, Beijing, China
  4. Key Laboratory for Neuroscience, Ministry of Education/National Health Commission of China, Peking University, Beijing, 100083 China
  5. Blood Transfusion Department, The Second Affiliated Hospital of Xi’an Jiaotong University, Xi’an, Shanxi 710004 China
Institutions: Henan University of Science and Technology (China); Peking University (China); Peking University First Hospital (China); First Affiliated Hospital of Henan University of Science and Technology (China); Second Affiliated Hospital of Xi'an Jiaotong University (China)
Journal: Human genomics, volume 20, issue 1, article 83
Dates: received 17 November 2025; accepted 19 March 2026; published online 3 April 2026
Type: Research article · Language: English
License: CC BY-NC-ND
Identifiers: DOI 10.1186/s40246-026-00956-5 · PMID 41933378 · PMCID PMC13173973 · OpenAlex W7148990236
Open access: gold, a free copy (OpenAlex)
Status: data only
Categories: genetics / omics (modality), human (organism), mouse (organism), cellular / molecular (subfield)
Methods: Evoked potentials
Keywords: Non-syndromic orofacial clefts, FAT3 gene, CNCCs, Wnt/β-catenin signaling pathway
MeSH: Cadherins*, Cleft Lip*, Cleft Palate*, Animals, beta Catenin, Cell Movement, Exome Sequencing, Female, Genetic Predisposition to Disease, Humans, Mice, Mutation, Missense, Neural Crest, Wnt Signaling Pathway (* major topic)
Topic: Cleft Lip and Palate Research (Genetics, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Funding: Peking University Medicine plus X Pilot Program-Platform Construction Project (2024YXXLHPT012); Sponsored by Beijing Nova Program (20250484784); Clinical Medicine Plus X - Young Scholars Project of Peking University (PKU2024LCXQ005); Beijing Natural Science Foundation (Z240020); The Fundamental Research Funds for the Central Universities (PKU2025PKULCXQ036)
Citations: not cited yet (Europe PMC); 46 references in the paper

Abstract

The abstract is not reproduced here: the paper's license (CC BY-NC-ND) does not allow it. Read it in the paper, at the publisher or on Europe PMC.

Code

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Data

Datasets cited

Data availability statement

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  • it says that the data are available on request

Read it in the paper: doi.org/10.1186/s40246-026-00956-5.

Versions

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Version 1, 28 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 7 authors, 4 keywords, 14 MeSH terms, 5 funders, 46 references.

Cite

This paper

Kong, Q., Qi, C., Zhao, Q., Peng, H., Dong, Y., Jiang, H., & Zhu, X. (2026). Rare variants in FAT3 as possible contributors to non-syndromic orofacial cleft risk. Human genomics, 20(1), 83. https://doi.org/10.1186/s40246-026-00956-5

BibTeX

@article{kong2026rare,
author = {Kong, Qianying and Qi, Chunhui and Zhao, Qian and Peng, Huifang and Dong, Yanying and Jiang, Hongwei and Zhu, Xuechen},
title = {{Rare variants in FAT3 as possible contributors to non-syndromic orofacial cleft risk}},
journal = {Human genomics},
year = {2026},
month = apr,
volume = {20},
number = {1},
pages = {83},
publisher = {BMC},
issn = {1473-9542},
doi = {10.1186/s40246-026-00956-5},
url = {https://doi.org/10.1186/s40246-026-00956-5},
pmid = {41933378},
pmcid = {PMC13173973}
}

RIS

TY - JOUR
AU - Kong, Qianying
AU - Qi, Chunhui
AU - Zhao, Qian
AU - Peng, Huifang
AU - Dong, Yanying
AU - Jiang, Hongwei
AU - Zhu, Xuechen
TI - Rare variants in FAT3 as possible contributors to non-syndromic orofacial cleft risk
T2 - Human genomics
J2 - Hum Genomics
PY - 2026
DA - 2026/04/03
VL - 20
IS - 1
SP - 83
SN - 1473-9542
PB - BMC
DO - 10.1186/s40246-026-00956-5
UR - https://doi.org/10.1186/s40246-026-00956-5
LA - en
ER -

CSL-JSON

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"given": "Qianying"
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"language": "en",
"issued": {
"date-parts": [
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}

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