Results 71 to 80 of about 6,876 (236)

Hypophosphatemic rickets: Revealing Novel Control Points for Phosphate Homeostasis [PDF]

, 2014
Rapid and somewhat surprising advances have recently been made towards understanding the molecular mechanisms causing heritable disorders of hypophosphatemia.
Econs, Michael J., Hum, Julia M., White, Kenneth E.   +2 more
core   +1 more source

Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia

Journal of Clinical Endocrinology & Metabolism, 1998
Hypophosphatemic rickets is commonly an X-linked dominant disorder (XLH or HYP) associated with a renal tubular defect in phosphate transport and bone deformities. The XLH gene, referred to as PHEX, or formerly as PEX (phosphate regulating gene with homologies to endopeptidases on the X-chromosome), encodes a 749-amino acid protein that putatively ...
Dixon, P H, Christie, P T, Wooding, C, Trump, D, Grieff, M, Holm, I, Gertner, J M, Schmidtke, J, Shah, B, Shaw, N, Smith, C, Tau, C, Schlessinger, D, Whyte, M P, Thakker, R V   +14 more
openaire   +3 more sources

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

Targeted Alkaline Phosphatase Therapy Enhances Alveolar Bone Healing in X‐Linked Hypophosphatemia in Mice

Journal of Periodontal Research, EarlyView.
Effects of exogenous tissue‐nonspecific alkaline phosphatase (TNAP) were analyzed in the Hyp mouse model of X‐linked hypophosphatemia (XLH). Maxillary first molars were extracted from wild‐type (WT) and Hyp mice at 6 weeks, and collagen gel ± TNAP was placed in sockets. In one group of Hyp mice, submucosal injections of TNAP or saline were delivered at
Aonjittra Phanrungsuwan, Bella Donnelly, José Luis Millán, Brian L. Foster   +3 more
wiley   +1 more source

X-linked vitamin D-resistant rickets: 12 years of follow-up

The Pan African Medical Journal, 2018
Rickets are abnormalities of mineralization that can lead to bone fractures and deformities. Vitamin-resistant rickets is defined as any rickets not prevented by regular, early and prolonged administration of vitamin D and not cured by a sufficient total
Ahmed Anas Guerboub, Souad Moussaoui, Jad Issouani, Yassine Errahali, Ghizlaine Belmejdoub   +4 more
doaj   +1 more source

ORCSim: a generalized Organic Rankine cycle simulation tool [PDF]

, 2015
An increasing interest in organic Rankine cycle (ORC) technology has led to numerous simulation and optimization studies. In the open-literature different modeling approaches can be found, but general software tools available to the academic/industrial ...
Braun, James, De Paepe, Michel, Georges, Emeline, Groll, Eckhard, Horton, Travis, van den Broek, Martijn, Woodland, Brandon, Ziviani, Davide   +7 more
core  

Current concepts in odontohypophosphatasia form of hypophosphatasia and report of two cases [PDF]

, 2016
published_or_final_versio
Qiao, W, Su, Y, Wang, ZY, Zhang, K, Zheng, GS   +4 more
core   +1 more source

Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation

The Journal of Clinical Endocrinology & Metabolism
Abstract Background X-linked hypophosphatemia (XLHR) is the most common genetic form of hypophosphatemic rickets (HR), which is caused by phosphate regulating endopeptidase homolog X-linked (PHEX) gene mutation.
Huixiao Wu, Hui Ying, Wanyi Zhao, Yan Sun, Yanzhou Wang, Xinyu Chen, Guimei Li, Yangyang Yao, Shuo Xu, Tianyou Li, Li Fang, Xiaoqing Sun, Ning Wang, Jin Xu, Qingbo Guan, Weibo Xia, Li Wang, Ling Gao, Jiajun Zhao, Chao Xu   +19 more
openaire   +2 more sources

Harnessing Bulk‐Segregant Mapping to Identify Trait‐Associated Genes in the Allopolyploid Model Plant Nicotiana benthamiana

Plant Biotechnology Journal, EarlyView.
ABSTRACT Forward genetics has been instrumental in identifying genes underlying desirable traits, yet its application to polyploid plants, many of which are key agricultural crops, remains challenging due to their genomic complexity. Therefore, we developed BenthMap, a bulk segregant analysis platform for high‐throughput trait mapping and gene ...
Zuba Ahmed, Jiyuan An, Satomi Hayashi, Julia Bally, Chris Winefield, Peter M. Waterhouse   +5 more
wiley   +1 more source

Nitrate Reduction for Deaminative Suzuki–Miyaura Coupling of Anilines

Angewandte Chemie, Volume 137, Issue 27, July 1, 2025.
We present a one‐step deaminative Suzuki–Miyaura‐type coupling of anilines via fleeting diazonium intermediate with nitrate and bisulfite as the reagents. This represents the first application of the nitrate reduction strategy in transition metal catalysis of diazonium chemistry.
Chen‐Chen Li, Áron Adorján, Manolis Sofiadis, Tim Schulte, Javier Mateos, Mike Rippegarten, Tobias Ritter   +6 more
wiley   +2 more sources