Results 81 to 90 of about 5,593 (209)

Alkaline phosphatases in the complex chronic kidney disease-mineral and bone disorders [PDF]

, 2018
Alkaline phosphatases (APs) remove the phosphate (dephosphorylation) needed in multiple metabolic processes (from many molecules such as proteins, nucleotides, or pyrophosphate). Therefore, APs are important for bone mineralization but paradoxically they
Aguilar, Armando, Benito, Silvia, Bover, Jordi, Cozzolino, Mario, Dasilva, Iara, López-Báez, Víctor, Mazzaferro, Sandro, Ramos, Alejandra, Ureña, Pablo   +8 more
core   +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

Genetic aspects of dental disorders [PDF]

, 1998
The document attached has been archived with permission from the Australian Dental Association. An external link to the publisher’s copy is included.This paper reviews past and present applications of quantitative and molecular genetics to dental ...
Aldred MJ, Arte S., Barnett ML., Bartold PM., Baum BJ, Beaty TH, Blackwell CC, Boraas JC, Boughman JA, Boughman JA, Boughman JA, Brown T., Byers PH, Cawson RA., Cheverud JM, Chung C., Chung CS, Chung CS, Chung CS, Conneally PM, Crall MG, Crosby AH, Crowley CA, Delgado WA, Dempsey PJ, Deutsch D., DeVries RR, Elston RC., Finn SB., Fisher RA., Gedda L., George A., Goodman HO, Gorlin RJ, Hart TC., Hassell TM, Hattab FN, Houwink B., Hunt HR, Hunt HR, Hunter WS., Kaslick RS, Katz J., King L., Kirstilia V., Lagerstrom M., Laine T., Lauweryns I., Lauweryns I., Leknes KN, Lundstrom A., MacDougall M., Marazita ML, Marazita ML, Markovic MD., Michalewicz BS., Michalowicz BS, Moller E., Moss ML., Peltomaki T., Potter RH., Potter RH., Proffit WR., Reinholdt J., Roulsten D., Shapira L., Slavkin HC., Smith RJ, Takashiba S., Townsend GC, Townsend GC, Townsend GC, Townsend GC, Towsend G., Varrela J., White R., Whitney C., Willett NP, Wynne SE, Zambon JJ, Zambon JJ   +80 more
core   +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

Condiciones sistémicas asociadas con periodontitis en la infancia y la adolescencia: una revisión de las posibilidades diagnósticas [PDF]

, 2005
El término periodontitis se usa para describir un grupo de enfermedades multifactoriales que llevan a la destrucción progresiva de las estructuras que unen los dientes a los maxilares, el llamado aparato de soporte, que incluye el ligamento periodontal ...
Korostoff, Jonathan, Pinto, Andrés, Sollecito, Thomas P., Stewart, Jeffrey, Sullivan, Kathleen E.   +4 more
core   +1 more source

the rare bone disorders use case [PDF]

, 2015
Background Lately, ontologies have become a fundamental building block in the process of formalising and storing complex biomedical information. The community-driven ontology curation process, however, ignores the possibility of multiple communities ...
Groza, Tudor, Robinson, Peter N., Tudorache, Tania, Zankl, Andreas   +3 more
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

Outlook Magazine, Fall 2002 [PDF]

, 2002
https://digitalcommons.wustl.edu/outlook/1147/thumbnail ...

core   +1 more source

The Retinal TNAP [PDF]

, 2015
Accumulating evidence from recent literature underline the important roles of tissue non specific alkaline phosphatase (TNAP) in diverse functions as well as diseases of the nervous system.
Cserpán, Dorottya, Kántor, Orsolya, Lukáts, Ákos, Somogyvári, Zoltán, Völgyi, Béla   +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