Results 51 to 60 of about 1,223,696 (186)

Research advances in Apert syndrome

Journal of Oral Biology and Craniofacial Research, 2018
Apert syndrome is one of the several genetic syndromes associated with craniosynostosis, a condition that includes premature fusion of one or multiple cranial sutures.
Satrupa Das, Anjana Munshi
doaj   +1 more source

Advances in FGF/FGFR Signaling: Implications for Disease and Therapy

MedComm, Volume 7, Issue 9, September 2026.
The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Miaoyu Song, Xi Liu, Yang Xiao, Yongsheng Li, Huakan Zhao   +4 more
wiley   +1 more source

Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature

Journal of Rare Diseases
Background Apert syndrome is a congenital condition characterized by coronal craniosynostosis, ex-orbitism, midface hypoplasia as well as symmetric syndactyly of both feet and hands.
Maimuna Abdatam, Charles John Nhungo, Frank Muhamba, Ally Hamis Mwanga, Larry Akoko, Charles A. Mkony   +5 more
doaj   +1 more source

Facts Do Not Organise Themselves: Whewell and the Conceptual Crisis in Medicine

Journal of Evaluation in Clinical Practice, Volume 32, Issue 6, September 2026.
ABSTRACT Rationale, Aims and Objectives Medicine has never possessed more data, yet the conviction that understanding has deepened with it is difficult to sustain. This paper argues that the shortfall is conceptual rather than empirical and turns to the philosophy of science of William Whewell to name it. Evidence‐based medicine tells clinicians how to
Robin J. Evans
wiley   +1 more source

Manifestations Ophtalmologiques Au Cours Du Syndrome D\'apert : A Propos D\'un Cas [PDF]

, 2008
Introduction : Parmi les crâniosténoses, le syndrome d\'Apert demande la collaboration de plusieurs spécialistes, pour sauver ce qui peut l\'être de la fonction visuelle des patients et permettre un développement cérébral le plus proche de la normale ...
S Mnif, Trojet, S, H Mazlout, MA El Afrit, M Triki, Mazlout, H, El Afrit, MA, Bouladi, M, Mnif, S, Kraiem, A, M Bouladi, Mnasri, H, S Trojet, A Kraiem, Triki, M, H Mnasri   +15 more
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Apert Syndrome.

The Journal of the Association of Physicians of India, 2015
Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.
Saikat, Datta, Sandip, Saha, Arnab, Kar, Souvonik, Mondal, Syamantak, Basu   +4 more
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SURGICAL TECHNIQUE FOR COMPLEX SYNDACTYLY IN APERT SYNDROME: A SERIAL CASE

Jurnal Rekonstruksi dan Estetik, 2019
Highlights: • Complex syndactyly in Apert syndrome, particularly when complicated with synonychia and synostosis, poses a significant surgical challenge.
Williams Mesang, Agus Santoso Budi, Magda Rosalina Hutagalung   +2 more
doaj   +1 more source

CRISPR/Cas9 mediated FGFR2 down-regulation alleviatespremature closure of cranial suture in an Apert syndromemouse model

生物医学转化, 2021
Apert syndrome (AS) is characterized by synostosis of coronal sutures, midfacial hypoplasia,abnormity of brain, syndactyly of hands and feet. Majority of AS is caused by gain-of-function mutation of fibro‐blast growth factor receptor 2 (FGFR2).
Luo Fengtao, Xie Yangli, Li Can, Tan Qiaoyan, Du Xiaolan, Chen Lin   +5 more
doaj   +1 more source

ERK‐Mediated Phosphorylation of YAP Defines a Noncanonical FGF Signaling Mechanism in Stem Cells

Advanced Science, Volume 13, Issue 37, 3 July 2026.
With a powerful combination of in vivo, ex vivo, and in vitro models, the authors highlight a novel FGF‐ERK signaling regulation of YAP at the S128 site in neural crest‐derived stem cells. This study opens exciting new directions in stem cell biology and craniofacial biology, paving the way for potential innovations in the treatment of craniofacial ...
Xiaolei Zhao, Shannon Erhardt, Li Tang, Xiaotong Chen, Stephen M Farmer, Zixiu Cheng, Wen Chen, Ella Ziyuan Lu, Kihan Sung, Chang‐Ru Tsai, Mingjie Zheng, Sheng Zhang, Yang Liu, Jianxin Wang, Min Li, James F Martin, Jun Wang   +16 more
wiley   +1 more source

A rare case of neonatal Apert syndrome [PDF]

, 2017
Apert syndrome is a rare Type I acrocephalosyndactyly syndrome. It is a congenital disorder characterized by premature fusionof cranial sutures (craniosynostosis), malformation of skull, hands, face, and feet.
Ahmed, S K Nazeer, Kumar, T Ravi
core