Results 61 to 70 of about 4,164 (178)

Molecular and Biochemical Aspects of Hypophosphatemic Rickets: An Updated Review [PDF]

International Journal of Basic Science in Medicine, 2017
Rickets is associated with aberrant mineralization in growth plates leading to the deformity of bone structure. The two main types of rickets are phosphopenic and calcipenic rickets. Phosphopenic rickets is found in a variety of sorts; the most common is
Fateme Asadzadeh Manjili, Mohammad Hosein Bakhshi Aliabad, Seyed Mehdi Kalantar, Afsaneh Sahebzamani, Amin Safa   +4 more
doaj   +1 more source

Transcriptomic signatures reveal systemic adaptations and immune modulation in response to training and competitive racing in horses

Equine Veterinary Journal, Volume 58, Issue 5, Page 1413-1444, September 2026.
Abstract Background The molecular mechanisms underlying adaptation to physical exertion and racing stress in horses remain incompletely understood. Peripheral blood transcriptomics offers a minimally invasive method to monitor systemic responses to exercise and identify biomarkers of adaptation or overload. Objectives To evaluate transcriptomic changes
Izabela Dąbrowska, Jowita Grzędzicka‐Agko, Paula Kiełbik, Michał Trela, Olga Witkowska‐Piłaszewicz   +4 more
wiley   +1 more source

PHEXL222P Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease

Genes, 2022
PhexL222P mouse is a new ENU mouse model for XLH disease due to Leu to Pro amino acid modification at position 222. PhexL222P mouse is characterized by growth retardation, hypophosphatemia, hypocalcemia, reduced body bone length, and increased epiphyseal growth plate thickness and femur diameter despite the increase in PHEXL222P expression.
El Hakam, Carole, Parenté, Alexis, Baraige, Fabienne, Magnol, Laetitia, Forestier, Lionel, Di Meo, Florent, Blanquet, Véronique   +6 more
openaire   +4 more sources

Proteomics-guided characterization of

OpenNano
Biological synthesis offers an alternative approach for producing silver nanoparticles (AgNPs) using naturally derived biomolecules. In this study, a protein-rich extract of Hericium erinaceus (PHEx) was used for the biosynthesis of protein-capped AgNPs,
Siripong Sukdee, Onmanee Prajuabjinda, Panita Chutimanukul, Preuk Chutimanukul   +3 more
doaj   +1 more source

A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets

Case Reports in Genetics, 2015
X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with
Tetsuya Kawahara, Hiromi Watanabe, Risa Omae, Toshiyuki Yamamoto, Tetsuya Inazu   +4 more
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

A novel PHEX mutation associated with vitamin D-resistant rickets [PDF]

Human Genome Variation, 2019
AbstractX-linked hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. Here, we present a case of XLH associated with a novel mutation in a phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX).
Saori Sako, Yo Niida, Kosuke Robert Shima, Yumie Takeshita, Kiyo-aki Ishii, Toshinari Takamura   +5 more
openaire   +2 more sources

Short stature in pre-pubertal children with X-linked hypophosphatemia

Endocrine Connections
Objective: Short stature is a characteristic of X-linked hypophosphatemia (XLH). We aim to explore the factors that influence the height of pre-pubertal children with XLH.
Hanting Liang, Wenting Qi, Chenxi Jin, Cong Zhang, Yushuo Wu, Xiaosen Ma, Qianqian Pang, Ruizhi Jiajue, Yue Chi, Wei Liu, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Jiajun Zhao, Weibo Xia   +15 more
doaj   +1 more source

In Vivo Base Editing Partially Rescues Bone Dysplasia in a Mouse Model of Hutchinson‐Gilford Progeria Syndrome

Aging Cell, Volume 25, Issue 9, September 2026.
Hutchinson‐Gilford progeria syndrome (HGPS) is a premature aging disorder caused by a mutation in LMNA that produces the toxic progerin protein. In this study, an adenine base editor delivered via AAV9 achieved partial gene correction in HGPS mice when given at two weeks of age, partially rescuing bone structural and gene expression parameters and ...
Wayne A. Cabral, Caleb M. Grenko, Diana Yeritsyan, Indeevar Beeram, Shubham Laiwala, Lukas R. Johnson, Urraca L. Tavarez, Tingfen Yan, Stephen M. Wincovitch, Luke W. Koblan, Xin D. Gao, Meirui An, Narisu Narisu, Leslie G. Biesecker, David R. Liu, Ara Nazarian, Francis S. Collins, Michael R. Erdos   +17 more
wiley   +1 more source

A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets [PDF]

Journal of Human Genetics, 2015
X-linked dominant hypophosphatemic rickets (XLHR), is characterized mainly by renal phosphate wasting with hypophosphatemia, short stature and abnormal bone mineralization. PHEX, located at Xp22.1-p22.2, is the gene causing XLHR. We aim to characterize the pathogenesis of a Chinese boy who is apparently 'heterozygous' in PHEX gene.
Chen, Weng, Jiao, Chen, Li, Sun, Zhong-Wei, Zhou, Xue, Feng, Jun-Hui, Sun, Ling-Ping, Lu, Ping, Yu, Ming, Qi   +8 more
openaire   +2 more sources