Results 61 to 70 of about 2,799 (170)

Monoclonal antibody anti-sclerostin for treatment of pelvic insufficiency fractures in adult hypophosphatasia: A case report

Trauma Case Reports
Hypophosphatasia is a rare inherited metabolic disease leading to inhibition of bone and teeth mineralization that can be complicated by multiple insufficiency fractures.
Pierre-Emmanuel Schwab, Alicia Dessain, Joshua Milby   +2 more
doaj   +1 more source

Dental manifestations in adult hypophosphatasia and their correlation with biomarkers

JIMD Reports, 2022
Hypophosphatasia (HPP) is a genetic condition with broad clinical manifestations caused by alkaline phosphatase (ALP) deficiency. Adults with HPP exhibit a wide spectrum of signs and symptoms.
Priya Sinha, Rachel Gabor, Rachael Haupt‐Harrington, Leila Deering, Robert D. Steiner   +4 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

Deficiency of Tissue Nonspecific Alkaline Phosphatase Dysregulates Microglial Morphology and Function in a Mouse Model of Infantile Hypophosphatasia

Journal of Neurochemistry, Volume 170, Issue 3, March 2026.
Using male and female tissue‐nonspecific alkaline phosphatase (TNAP) knockout (KO) and wild type (WT) mice, we show TNAP loss impairs growth and sensorimotor function and induces marked microglial morphological changes (enlarged soma, retracted processes).
Kareem Elaswad, Yara Mashal, Iyah Nasser, Linna Almhanaa, Chloe Grabowski, Zhi Zhang   +5 more
wiley   +1 more source

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

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

Neonatal form of hypophosphatasia. A case report

The Turkish Journal of Pediatrics, 1995
Hypophosphatasia is a rare (1/100,000), inherited inborn error of metabolism characterized by low serum and tissue alkaline phosphatase activities resulting in skeletal abnormalities.
G Tekinalp, B Gürakan, S Yalçin, M Cağlar, H Ergin   +4 more
doaj  

Decade-long delayed diagnosis of hypophosphatasia until next generation tooth loss: case reports on dental rehabilitation, diagnostic challenges and clinical implications

Frontiers in Oral Health
Hypophosphatasia (HPP) is a rare metabolic bone disorder caused by functional mutations in the gene Alkaline Phosphatase, Liver/Bone/Kidney (ALPL), resulting in impaired mineralization of bones and teeth.
Yating Cao, Feng Zhang, Xingxing Huang, Ai Jiang, Shaoyun Jiang, Min Wu   +5 more
doaj   +1 more source

Hypophosphatasia [PDF]

Skeletal Radiology, 2012
Haisong, Chen, Yan, Han, Xiaofei, Li, Xuejun, Liu, Weihua, Feng, Wenjian, Xu   +5 more
openaire   +2 more sources