Results 101 to 110 of about 14,236 (244)

Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials

Molecular Genetics and Metabolism Reports, 2020
Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene.
Hitomi Nishizawa, Yoshihiko Sato, Masumi Ishikawa, Yuko Arakawa, Mari Iijima, Tomoyuki Akiyama, Kyoko Takano, Atsushi Watanabe, Tomoki Kosho   +8 more
doaj   +1 more source

Egg yolk hydrolysate shows moderate impact on osteoporosis in ovariectomized rats

Journal of the Science of Food and Agriculture, Volume 106, Issue 7, Page 4218-4227, May 2026.
Abstract BACKGROUND This study investigated the protective effect of egg yolk hydrolysate (FC) on osteoporosis in ovariectomized (OVX) rats, a well‐established model of postmenopausal bone loss. OVX rats were fed diets supplemented with 0.2% or 1% FC for 13 weeks.
Ilekuttige Priyan Shanura Fernando, Da Shi, Zihan Wang, Michael Doschak, Jianping Wu   +4 more
wiley   +1 more source

Effects of Egg Yolk-Derived Peptide on Osteogenic Gene Expression and MAPK Activation

Molecules, 2014
The present study investigated the effects of egg yolk-derived peptide (YPEP) on osteogenic activities and MAPK-regulation of osteogenic gene expressions.
Hye Kyung Kim, Myung-Gyou Kim, Kang-Hyun Leem   +2 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Multi‐Omics Signatures of Organ Clocks in Biological Aging and Disease: A Conceptual Framework for Organ‐Specific Aging Clocks

Aging Cell, Volume 25, Issue 5, May 2026.
Organ‐specific aging clocks integrating genomics, epigenomics, transcriptomics, proteomics, and metabolomics offer a more accurate assessment of biological aging than single‐omics approaches. This review proposes a multi‐omics framework emphasizing tissue data, longitudinal study designs, and clinically meaningful training outcomes to advance the ...
Maria Vasileiou, Gabor Liposits, Bara Barakat, Nam P. Nguyen   +3 more
wiley   +1 more source

Escape through a time-dependent hole in the doubling map

, 2014
We investigate the escape dynamics of the doubling map with a time-periodic hole. We use Ulam's method to calculate the escape rate as a function of the control parameters.
Dettmann, Carl P., Georgiou, Orestis, Leonel, Edson D., Livorati, André L. P.   +3 more
core   +3 more sources

Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum [PDF]

, 2014
BACKGROUND: Pseudoxanthoma elasticum (PXE) is characterized by skin (papular lesions), ocular (subretinal neovascularisation) and cardiovascular manifestations (peripheral artery disease), due to mineralization and fragmentation of elastic fibres in the ...
Coucke, Paul, De Paepe, Anne, Hosen, Mohammad Jakir, Le Saux, Olivier, Vanakker, Olivier   +4 more
core   +3 more sources

Pathophysiology and Molecular Signalling in Osteoporosis: Linking Risk Factors to Bone Loss

Journal of Cellular and Molecular Medicine, Volume 30, Issue 9, May 2026.
ABSTRACT Osteoporosis is a prevalent skeletal disorder characterised by progressive reduction in bone mass, microarchitectural deterioration, and increased fracture susceptibility. In India, approximately one‐third of the elderly population is affected by bone‐related disorders, and the global burden of osteoporosis continues to rise.
Pramoda G., Kamini Shivhare, Piyush Kumar Gupta, Amirhossein Sahebkar, Prashant Kesharwani, Rahul Shukla   +5 more
wiley   +1 more source

Dysregulation of CD39/Ectonucleoside Triphosphate Diphosphohydrolase 1 Causes Urinary Bladder Dysfunction with Abnormal Smooth Muscle Contractility

The FASEB Journal, Volume 40, Issue 7, 15 April 2026.
Abnormal extracellular ATP levels cause lower urinary tract symptoms (LUTS). Here, we demonstrate that overexpression of ENTPD1 (CD39TG)—an ATP/ADP converting enzyme—reduces voiding frequency while increasing void volume. Conversely, ENTPD1 deficiency results in frequent, small‐volume voiding.
Zhaobo Luo, Huan Chen, Ali Wu, Weipu Mao, Sagar Barge, Seth L. Alper, Simon C. Robson, Weiqun Yu   +7 more
wiley   +1 more source

Adult-onset hypophosphatasia diagnosed after consecutive tooth loss during orthodontic treatment: a case report

Journal of Medical Case Reports
Background Adult hypophosphatasia is an uncommon inherited disorder of mineral homeostasis affecting bone. It arises from mutations within the Alkaline Phosphatase, Biomineralization Associated (ALPL) gene, which encodes tissue-nonspecific alkaline ...
Shusuke Tokuchi, Toshihiro Kawano, Edward Hosea Ntege, Makoto Murahashi, Kentaro Ide, Nobuyuki Maruyama, Risako Suzuki, Mirei Takai-Nabeta, Tsuyoshi Nabeta, Hideo Tanaka, Yusuke Shimizu, Hiroyuki Nakamura   +11 more
doaj   +1 more source