Results 131 to 140 of about 10,706 (212)

Utility of Cytochemical and Flow Cytometry Detection of Alkaline Phosphatase for Differential Diagnosis of CD34+ Acute Leukaemia in Canines

Veterinary and Comparative Oncology, Volume 24, Issue 1, Page 41-50, March 2026.
ABSTRACT Alkaline phosphatase (ALP) enzymatic activity has been proposed as a marker for distinguishing canine acute leukaemia (AL) subtypes (i.e., myeloid vs. lymphoid). However, ALP enzymatic activity has not been fully evaluated in CD34+ AL. Determine whether ALP enzymatic activity can differentiate CD34+ AL subtypes in dogs and distinguish CD34+ AL
Megan Aalto, Janna Yoshimoto, Jillian Nolan, Kenzie Olsen, Dylan Ammons, Emily Rout, Anne C. Avery, R. Adam Harris   +7 more
wiley   +1 more source

MECP2 Insufficiency Attenuates RUNX2‐Dependent Osteoblast Differentiation via miR‐126‐3p/DKK1‐Mediated Canonical Wnt Signaling Inhibition in Rett Syndrome

The FASEB Journal, Volume 40, Issue 4, 28 February 2026.
MECP2 insufficiency leads to upregulation of miR‐126‐3p, which in turn enhances the endogenous Wnt antagonist DKK1. DKK1 inhibits the canonical Wnt signaling pathway, thereby impairing RUNX2‐dependent osteoblast differentiation. ABSTRACT Rett syndrome (RTT) is a rare neurodevelopmental disorder caused by loss‐of‐function mutations in the gene encoding ...
Shuangshan Dong, Lu Wang, Hiroki Kato, Saki Hirofuji, Zhiyan Zhou, Yosuke Ito, Yuta Hirofuji, Hiroshi Sato, Takahiro A. Kato, Yasunari Sakai, Shouichi Ohga, Satoshi Fukumoto, Keiji Masuda   +12 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

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

A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the ALPL gene. [PDF]

Clin Pediatr Endocrinol, 2023
Tachikawa K, Yamazaki M, Michigami T.
europepmc   +1 more source

Hypophosphatasia: Phenotypic Variability and Possible Croatian Origin of the c.1402G>A Mutation of TNSALP Gene [PDF]

, 2009
Hypophosphatasia is a metabolic bone disease characterized by bone and teeth hypomineralization due to defective function of tissue-nonspecific alkaline phosphatase (TNSALP).
Danijela Petkovi}, Davor Begovi}, Etienne Mornet, Feodora Stipoljev, Ivo Bari}, Kristina Poto~ki, Ksenija Fumi}, Ramad `, Vladimir Sarnavka   +8 more
core   +1 more source

ALPL Gene [PDF]

, 2020
openaire   +1 more source

New homozygous mutation in ALPL gene in Saudi patient with infantile hypophosphatasia [PDF]

Clinical and Medical Investigations, 2017
Maha Alotaibi, Al Qassmi Amal
openaire   +1 more source

A case report of unsuccessful enzyme replacement therapy in perinatal hypophosphatasia: impact of comorbid tetralogy of Fallot, prematurity, and novel variants

Journal of Rare Diseases
Hypophosphatasia (HPP) is a rare inborn error of metabolism characterized by defective bone mineralization due to alkaline phosphatase (ALP) deficiency encoded by the gene ALPL (Orphanet J Rare Dis 2:40, 2007), (Am J Med 22:730-746, 1957).
Tram Le, Bridget Fitzgerald, Michael Chomat, Jamie Sinton   +3 more
doaj   +1 more source