Results 91 to 100 of about 1,777 (209)

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

Journal of Periodontal Research, Volume 61, Issue 3, Page 309-322, March 2026.
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

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

Osteoporosis in young adults: pathophysiology, diagnosis, and management [PDF]

, 2018
Postmenopausal osteoporosis is mainly caused by increased bone remodeling resulting from estrogen deficiency. Indications for treatment are based on low areal bone mineral density (aBMD, T-score ≤ −2.5), typical fragility fractures (spine or hip), and ...
Adami, S., Bianchi, M., de Vernejoul, M.-C, Eisman, J., Ferrari, S., Foldes, A., Kaufman, J.-M, Stepan, J., Wahl, D.   +8 more
core  

Imaging and reporting considerations for suspected physical abuse (non-accidental injury) in infants and young children. Part 2: axial skeleton and differential diagnoses [PDF]

, 2017
Recognising the skeletal manifestations of inflicted injury (II) in infants and young children is of crucial importance. There are specific fracture patterns which are highly suspicious of II in addition to common differential diagnoses with which ...
Offiah, A.C., Paddock, M., Sprigg, A.
core   +1 more source

Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health

Clinical Genetics, Volume 109, Issue 2, Page 266-276, February 2026.
In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima, Eduardo Delabio Auer, Isabela Dall’Oglio Bucco, Valéria Bumiller‐Bini Hoch, Priscila Ianzen dos Santos, Fabiana L. Lopes, Alan Shuldiner, Emilton Lima Júnior, Angelica Beate Winter Boldt   +8 more
wiley   +1 more source

Dual X-ray absorptiometry has limited utility in detecting bone pathology in children with hypophosphatasia: A pooled post hoc analysis of asfotase alfa clinical trial data [PDF]

, 2020
Asfotase alfa is an enzyme replacement therapy approved for treatment of patients with pediatric-onset hypophosphatasia (HPP), a rare, inherited, systemic disease causing impaired skeletal mineralization, short stature, and reduced physical function in ...
Martos-Moreno, Gabriel, Petryk, Anna, Rush, Eric T., Simmons, Jill H., Zhou, Shanggen   +4 more
core   +1 more source

Pharmacotherapy Risks in Rare Genetic Diseases: Cross‐Referencing ACMG Secondary Findings v3.2 List With Clinical Databases

Clinical and Translational Science, Volume 19, Issue 1, January 2026.
ABSTRACT Clinical genomics and pharmacogenomics have largely remained separate fields, though some genetic variants have overlapping disease risk and drug implications. However, the extent of this overlap is not well studied. To explore this gap, we cross‐referenced genes from the American College of Medical Genetics Secondary Findings v3.2 list with ...
Josiah D. Allen, Benjamin Q. Duong, Jordan Brady, Pamela Arn   +3 more
wiley   +1 more source

Outlook Magazine, Spring 2012 [PDF]

, 2012
https://digitalcommons.wustl.edu/outlook/1186/thumbnail ...

core   +1 more source

Proximal Tibial Epiphyseal Injury in a 14‐Year‐Old Asian Male With Vitamin D Deficiency as a Possible Cause: A Case Report

Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.
We report a case of a 14‐year‐old Asian male who presented with a Salter–Harris Type II injury of the proximal tibial epiphysis and a fibular fracture following a minor mechanism of injury. The patient was emergency transported to our hospital with complaints of pain and flexion deformity around the left knee following a contusion.
Shotaro Kawamura, Kenta Kamo, Hidehiko Kido, Akihisa Haraguchi, Yoshihide Shinjo, Shigemasa Kuga, Shashank Kaushik   +6 more
wiley   +1 more source

Natural history of perinatal and infantile hypophosphatasia: A retrospective study [PDF]

, 2019
Objective: To report clinical characteristics and medical history data obtained retrospectively for a large cohort of pediatric patients with perinatal and infantile hypophosphatasia.
Argente, Jesús, Beck, Michael, DiMeglio, Linda, Fujita, Kenji P., Hofmann, Christine, Leung, Edward, Liese, Johannes, Martos-Moreno, Gabriel, Moseley, Scott, Reeves, Amy, Simm, Peter, Simmons, Jill, Steelman, Joel, Steiner, Robert D., Superti-Furga, Andrea, Whyte, Michael P., Wilcox, William R., Wuh-Liang Hwu, Paul   +17 more
core   +1 more source