Results 271 to 280 of about 113,623 (349)

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, Volume 109, Issue 2, Page 305-315, February 2026.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source

RETRACTION: TLR4 Modulates Senescence and Paracrine Action in Placental Mesenchymal Stem Cells via Inhibiting Hedgehog Signaling Pathway in Preeclampsia. [PDF]

Oxid Med Cell Longev
Cellular Longevity OMA.
europepmc   +1 more source

Prevalence and Patterns of Permanent Tooth Agenesis in Patients With Crouzon or Apert Syndrome: A Systematic Review and Meta‐Analysis

Orthodontics &Craniofacial Research, Volume 29, Issue 1, Page 1-11, February 2026.
ABSTRACT Crouzon and Apert syndromes are rare syndromic craniosynostoses frequently associated with craniofacial and dental anomalies, including tooth agenesis. Although individual studies have reported tooth agenesis prevalence data in specific populations, no attempts have been made to systematically synthesise these data.
M. Cecilia Becerril Santos, Edwin M. Ongkosuwito, Alexandra K. Papadopoulou, Gregory S. Antonarakis   +3 more
wiley   +1 more source

Integrative genomic analyses on GLI1: Positive regulation of GLI1 by Hedgehog-GLI, TGFβ-Smads, and RTK-PI3K-AKT signals, and negative regulation of GLI1 by Notch-CSL-HES/HEY, and GPCR-Gs-PKA signals

, 2009
Katoh
openalex   +2 more sources

Hedgehog signaling controls astral microtubules and mitotic spindle orientation in neural progenitors and iPSCs. [PDF]

Front Cell Dev Biol
Liu F, Medyukhina A, Olesen KM, Shirinifard A, Jin H, Li L, Mapelli M, Khairy K, Han YG.   +8 more
europepmc   +1 more source

Hedgehog Signaling Functions in Spermatogenesis and Keeping Hemolymph-Testis Barrier Stability in <i>Eriocheir sinensis</i>. [PDF]

Int J Mol Sci
Yu JJ, Qi HY, Zhao Z, Yang Y, Zhang SY, Tan FQ, Yang WX.   +6 more
europepmc   +1 more source

Peroxisome proliferator-activated receptors-mediated diabetic wound healing regulates endothelial cells' mitochondrial function via sonic hedgehog signaling. [PDF]

Burns Trauma
Rui S, Xiao F, Li Q, Yang M, Dai L, Yu S, Zhang X, Jiang X, Ahn S, Wang W, Armstrong DG, Wang H, Huang G, Deng W.   +13 more
europepmc   +1 more source

Mechanisms of enhancer‐driven oncogene activation

International Journal of Cancer, Volume 158, Issue 2, Page 333-341, 15 January 2026.
Abstract An aggressive subtype of acute myeloid leukemia (AML) is caused by enhancer hijacking resulting in MECOM overexpression. Several chromosomal rearrangements can lead to this: the most common (inv(3)/t(3;3)) results in a hijacked GATA2 enhancer, and there are several atypical MECOM rearrangements involving enhancers from other hematopoietic ...
Joyce Vriend, Ruud Delwel, Dorien Pastoors   +2 more
wiley   +1 more source

HOXB4 Promotes Bladder Cancer Progression in Part Through Transcriptional Activation of Smoothened

The FASEB Journal, Volume 40, Issue 1, 15 January 2026.
HOXB4 is overexpressed in bladder cancer and associated with poor prognosis. By transcriptionally activating Smoothened (SMO), HOXB4 amplifies SMO–GLI signaling to promote tumor growth and metastatic behavior. This graphical abstract highlights the HOXB4–SMO axis as a key driver of bladder cancer progression and a potential target for future ...
Zhaoheng Jin, Wenjie Yang, Yueqiang Peng, Lin Ma, Ziyi Li, Jie Dong, Zhigang Ji   +6 more
wiley   +1 more source

Hedgehog Signaling Pathway in Fibrosis and Targeted Therapies. [PDF]

Biomolecules
Hu Y, Peng L, Zhuo X, Yang C, Zhang Y.
europepmc   +1 more source