Results 41 to 50 of about 2,193 (172)

Light‐Inducible Activation of FGFR3 Facilitates Chondrocyte Maturation

Cell Proliferation, Volume 59, Issue 7, July 2026.
Light‐inducible activation of FGFR3 induced robust activation of MAPK signaling, promoting proliferation and collagen depositon in induced chondrocytes and prevent the degeneration of osteoarthritic chondrocytes.
Mengze Sun, Yun Zhao, Yuqing Du, Yifei Fan, Kai Wang, Xiaoqing Hu   +5 more
wiley   +1 more source

Functional Screenings Identify Regulatory Variants Associated with Breast Cancer Susceptibility

Current Issues in Molecular Biology, 2021
Genome-wide association studies (GWAS) have identified more than 2000 single nucleotide polymorphisms (SNPs) associated with breast cancer susceptibility, most of which are located in the non-coding region.
Naixia Ren, Yingying Li, Yulong Xiong, Panfeng Li, Yutian Ren, Qilai Huang   +5 more
doaj   +1 more source

A Combination of Variants in SEPTIN9 and MSX1 Genes Leads to the Formation of Orofacial Clefts

Genes to Cells, Volume 31, Issue 4, July 2026.
Double‐depleted Xenopus embryos of xMSX1 and xSEPTIN9 exhibited orofacial clefts, and wild‐type but not variants in human MSX1 and human SEPTIN9 mRNAs could rescue the phenotype of morphants, indicating that variants in MSX1 and SEPTIN9, each individually tolerated, synergistically disrupt craniofacial morphogenesis to cause orofacial clefts.
Udval Uuganbayar, Zarko Manojlovic, Nao Ito, Reiko Yamaguchi, Hiromasa Ninomiya, Issei S. Shimada, Chisato Yamada, Devin Feigelson, Gretchen Schulz, Allyn Auslander, Sylvia Rakotoarison, William Magee III, Yutaka Hashimoto, Yoichi Kato   +13 more
wiley   +1 more source

Deletion of a Pax1 Sex‐Associated Genomic Region Associated With Adolescent Idiopathic Scoliosis Leads to Disc Degeneration, Instability, and Vertebral Rotation in Mice

JOR SPINE, Volume 9, Issue 2, June 2026.
Overview of the effects of Pax1‐SAR deletion on gene expression, IVD degeneration, and resultant scoliotic‐like curvature between sexes. Proposed mechanism of sex‐dependent changes in gene expression in females (right) and males (left), resulting in sex‐dependent disc degeneration and scoliotic phenotypes.
Edward C. Moody, Emma M. Wade, Shuji Mizumoto, Jeremy McCallum‐Loudeac, Megan J. Wilson   +4 more
wiley   +1 more source

A Modular Bioinstructive Platform Reveals Mechanistic Insights into Additive‐Free, Topography‐Driven Osteogenesis

Advanced Healthcare Materials, Volume 15, Issue 18, 15 May 2026.
Engineered microparticle topographies direct human mesenchymal stem cell osteogenesis without biochemical additives. This osteogenic commitment is driven by canonical Hedgehog signaling and followed by temporal IGF‐II engagement. Two‐photon polymerization demonstrates spatial control, enabling the engineering of topographical gradients that pattern ...
Fatmah I. Ghuloum, Leo A. H. Zeef, Lee A. Stevens, Marco A. N. Domingos, Susan J. Kimber, Mahetab H. Amer   +5 more
wiley   +1 more source

A novel mutation in the WNT6 gene of congenital tooth agenesis

口腔疾病防治, 2023
Objective This article explores the relationship between congenital tooth agenesis and related gene mutations, providing a reference for early diagnosis of the disease.
DAI Zhuo, LI Lili , ZHANG Xiaoxin , MOU Yongbin, CHEN Bin   +4 more
doaj   +1 more source

The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases

MedComm, Volume 7, Issue 4, April 2026.
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi, Shahin Ramazi, Mona Darvazi, Sepideh Yoosefi, Melika Abbasi, Shirin Farsad   +5 more
wiley   +1 more source

PAX9 Is Involved in Periodontal Ligament Stem Cell-like Differentiation of Human-Induced Pluripotent Stem Cells by Regulating Extracellular Matrix

Biomedicines, 2022
Periodontal ligament stem cells (PDLSCs) play central roles in periodontal ligament (PDL) tissue homeostasis, repair, and regeneration. Previously, we established a protocol to differentiate human-induced pluripotent stem cell-derived neural crest-like ...
Risa Sugiura, Sayuri Hamano, Atsushi Tomokiyo, Daigaku Hasegawa, Shinichiro Yoshida, Hideki Sugii, Shoko Fujino, Orie Adachi, Masataka Kadowaki, Daiki Yamashita, Hidefumi Maeda   +10 more
doaj   +1 more source

International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives

Movement Disorders, Volume 41, Issue 4, Page 889-900, April 2026.
Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet, Claudia Ravelli, Lydie Burglen, Sol Balsells Mejia, Angel Valls‐Villalba, Elies Roman Schiffels, Alice Innocenti, Beatriz Villafuerte, Ainara Salazar‐Villacorta, Vicente Quiroz, Andrea Sariego Jamardo, Giulia Bonato, Asun Díaz‐Gomez, Alexandra Afenjar, Catheline Vilain, Patricia Dumke da Silva Möller, Deyanira Garcia‐Navas Nuñez, Magdalena Krygier, Maria Judit Molnar, Łukasz Milanowski, Katrin Õunap, Micaela Pauni, Patricia Vega, Raphael Borie, Milena Villamil‐Osorio, Sanem Yilmaz, Dénes Zádori, Marta Zawadzka, Tahsin Stefan Barakat, Sebastian Neuens, Daniel de Natera‐de Benito, Dídac Casas‐Alba, Luca Soliani, Claudio M. de Gusmao, Giacomo Garone, Nicola Specchio, Miryam Carecchio, José C. Moreno, Francesca Magrinelli, Kailash P. Bhatia, Darius Ebrahimi‐Fakhari, Claudia Castiglioni, Manju Ann Kurian, João Nuno Carvalho, Roser Pons, Emmanuel Roze, Diane Doummar, Juan Darío Ortigoza‐Escobar   +47 more
wiley   +1 more source

Targeting of Slc25a21 is associated with orofacial defects and otitis media due to disrupted expression of a neighbouring gene.

PLoS ONE, 2014
Homozygosity for Slc25a21(tm1a(KOMP)Wtsi) results in mice exhibiting orofacial abnormalities, alterations in carpal and rugae structures, hearing impairment and inflammation in the middle ear.
Simon Maguire, Jeanne Estabel, Neil Ingham, Selina Pearson, Edward Ryder, Damian M Carragher, Nicolas Walker, Sanger MGP Slc25a21 Project Team, James Bussell, Wai-In Chan, Thomas M Keane, David J Adams, Cheryl L Scudamore, Christopher J Lelliott, Ramiro Ramírez-Solis, Natasha A Karp, Karen P Steel, Jacqueline K White, Anna-Karin Gerdin   +18 more
doaj   +1 more source