Results 131 to 140 of about 10,834 (202)

Molecular Insights Into Canine Hepatocellular Carcinoma: A Cross‐Species Transcriptomic Comparison With Human HCC

Molecular Carcinogenesis, Volume 65, Issue 4, Page 523-536, April 2026.
ABSTRACT Canine hepatocellular carcinoma (HCC) requires further molecular characterization to identify diagnostic and therapeutic targets, and to establish whether dogs with this condition can model the human disease. Accordingly, we aimed to identify differentially expressed genes (DEGs) in canine HCC and evaluate cross‐species transcriptomic ...
Mohammad Arif, MD Nazmul Hasan, Nobuhiro Nozaki, Yutaro Ide, Yoshiyuki Akiyama, Shaohsu Wang, Most Shumi Akhter Shathi, Osamu Yamato, Naoki Miura   +8 more
wiley   +1 more source

Hypophosphatasia in childhood: Diagnosis to management

Osteoporosis and Sarcopenia
Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by loss-of-function mutations in the ALPL gene, leading to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP).
Minji Im, Sung Yoon Cho
doaj   +1 more source

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

BMC Medical Genetics, 2009
Background Mild hypophosphatasia (HPP) phenotype may result from ALPL gene mutations exhibiting residual alkaline phosphatase activity or from severe heterozygous mutations exhibiting a dominant negative effect.
Fauvert Delphine, Brun-Heath Isabelle, Lia-Baldini Anne-Sophie, Bellazi Linda, Taillandier Agnès, Serre Jean-Louis, de Mazancourt Philippe, Mornet Etienne   +7 more
doaj   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

Prosthodontic Rehabilitation Of Hypophosphatasia With 13-Year Implant Follow-Up

International Dental Journal
Introduction: This case presents a 13-year follow-up of a patient with odontohypophosphatasia (odonto-HPP), the most prevalent form of hypophosphatasia (HPP), who underwent prosthodontics rehabilitation using dental implants.
Tongxin Zhu, Bin Chen
doaj   +1 more source

Association of Bone Loss with the Upregulation of Survival-Related Genes and Concomitant Downregulation of Mammalian Target of Rapamycin and Osteoblast Differentiation-Related Genes in the Peripheral Blood of Late Postmenopausal Osteoporotic Women

Journal of Osteoporosis, 2015
We aimed to identify bone related markers in the peripheral blood of osteoporotic (OP) patients that pointed toward molecular mechanisms underlying late postmenopausal bone loss. Whole blood from 22 late postmenopausal OP patients and 26 healthy subjects
Elena V. Tchetina, Karina A. Maslova, Mikhail Y. Krylov, Valery A. Myakotkin   +3 more
doaj   +1 more source

Soluble Sema4D From γδ T Cells Exerts Osteoblast Inhibition via Plexin‐B/mTOR Signalling Contributing to Pathogenesis of Bisphosphonate‐Related Osteonecrosis of the Jaws

Cell Proliferation, Volume 59, Issue 4, April 2026.
Schematic summarizing the pathway of sSema4D from γδ T cells inhibiting osteoblast differentiation in BRONJ. ABSTRACT Bisphosphonate‐related osteonecrosis of the jaw (BRONJ) is a severe complication in patients undergoing long‐term bisphosphonate therapy, while our knowledge on the pathogenesis of BRONJ is far from sufficient.
Lingling Ou, Shijia Qiao, Zhuoyi Liao, Xiner Tan, Hui Huang, Zhiyan Zhou, Ruhui Luo, Weijun Zeng, Yan Yang, Zhongxuan Zhang, Jingchen Chen, Shengli Wang, Yiqin Jiang, Jianlei Hao, Yuqin Shen, Longquan Shao   +15 more
wiley   +1 more source

The skeletal muscle–adipose creatine metabolic axis: A novel paradigm for lipid metabolism reprogramming and obesity management

Experimental Physiology, Volume 111, Issue 4, Page 1700-1707, 1 April 2026.
Abstract The global prevalence of obesity and related metabolic disorders has spurred interdisciplinary research to develop new intervention strategies. Current research is increasingly focusing on the exercise‐induced browning of white adipose tissue and the mechanisms by which it improves energy metabolism.
Yuhui Su, Na Liu, Yang Liu, Yiqun Sun, Yike Jiao   +4 more
wiley   +1 more source

A heterozygous mutation in the ALPL gene in an adolescent with Chiari malformation type I accompanied by scoliosis, tethered cord and diastematomyelia. [PDF]

Acta Neurol Belg, 2023
Xu L, Ma C, Shen S, Duan H, Li X.
europepmc   +1 more source

Regulation of osteoblast development by Bcl-2-associated athanogene-1 (BAG-1)

BCL-2-associated athanogene-1 (BAG-1) is expressed by osteoblast-lineage cells; early embryonic lethality in Bag-1 null mice, however, has limited the investigation of BAG-1 function in osteoblast development.
Cutress, Ramsey, Greenhough, Joanna, Oreffo, Richard, Papadakis, Manos, Tare, Rahul, Townsend, Paul   +5 more
core   +1 more source