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Hypophosphatasia.
Fenn JS, Lorde N, Ward JM, Borovickova I. Fenn JS, et al. J Clin Pathol. 2021 Oct;74(10):635-640. doi: 10.1136/jclinpath-2021-207426. Epub 2021 Apr 30. J Clin Pathol. 2021. PMID: 33931563 Review.
Hypophosphatasia (HPP) is a group of inherited disorders characterised by the impaired mineralisation of bones and/or teeth and low serum alkaline phosphatase (ALP) activity. It is caused by a mutation in the ALPL gene encoding the tissue-non-specific …
Hypophosphatasia (HPP) is a group of inherited disorders characterised by the impaired mineralisation of bones and/or teeth and low s …
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.
Mornet E, Taillandier A, Domingues C, Dufour A, Benaloun E, Lavaud N, Wallon F, Rousseau N, Charle C, Guberto M, Muti C, Simon-Bouy B. Mornet E, et al. Eur J Hum Genet. 2021 Feb;29(2):289-299. doi: 10.1038/s41431-020-00732-6. Epub 2020 Sep 24. Eur J Hum Genet. 2021. PMID: 32973344 Free PMC article.
Hypophosphatasia (HPP) is caused by pathogenic variants in the ALPL gene. ...Adults with dominant HPP without DNE represent a new clinical entity mostly diagnosed from 2010s, characterized by nonspecific signs of HPP and low alkaline phosphatase, and f …
Hypophosphatasia (HPP) is caused by pathogenic variants in the ALPL gene. ...Adults with dominant HPP without DNE represent a …
Diagnostic Approach to Patients with Low Serum Alkaline Phosphatase.
Riancho JA. Riancho JA. Calcif Tissue Int. 2023 Mar;112(3):289-296. doi: 10.1007/s00223-022-01039-y. Epub 2022 Nov 8. Calcif Tissue Int. 2023. PMID: 36348061 Review.
Increased serum levels of alkaline phosphatase (ALP) are widely recognized as a biochemical marker of many disorders affecting the liver or bone. ...Persistently low serum ALP may be secondary to drug therapy (including antiresorptives) or a variety of acquired diso …
Increased serum levels of alkaline phosphatase (ALP) are widely recognized as a biochemical marker of many disorders affecting …
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.
Del Angel G, Reynders J, Negron C, Steinbrecher T, Mornet E. Del Angel G, et al. Hum Mutat. 2020 Jul;41(7):1250-1262. doi: 10.1002/humu.24010. Epub 2020 Mar 18. Hum Mutat. 2020. PMID: 32160374 Free PMC article.
Hypophosphatasia (HPP) is a rare metabolic disorder characterized by low tissue-nonspecific alkaline phosphatase (TNSALP) typically caused by ALPL gene mutations. ...We used resulting data as a reference to develop a new computatio …
Hypophosphatasia (HPP) is a rare metabolic disorder characterized by low tissue-nonspecific alkaline phosphat …
Physiological blood-brain transport is impaired with age by a shift in transcytosis.
Yang AC, Stevens MY, Chen MB, Lee DP, Stähli D, Gate D, Contrepois K, Chen W, Iram T, Zhang L, Vest RT, Chaney A, Lehallier B, Olsson N, du Bois H, Hsieh R, Cropper HC, Berdnik D, Li L, Wang EY, Traber GM, Bertozzi CR, Luo J, Snyder MP, Elias JE, Quake SR, James ML, Wyss-Coray T. Yang AC, et al. Nature. 2020 Jul;583(7816):425-430. doi: 10.1038/s41586-020-2453-z. Epub 2020 Jul 1. Nature. 2020. PMID: 32612231 Free PMC article.
This age-related shift occurs alongside a specific loss of pericyte coverage. Pharmacological inhibition of the age-upregulated phosphatase ALPL, a predicted negative regulator of transport, enhances brain uptake of therapeutically relevant transferrin, transferrin …
This age-related shift occurs alongside a specific loss of pericyte coverage. Pharmacological inhibition of the age-upregulated phosphata …
Genetic hypercalcemia.
Cormier C. Cormier C. Joint Bone Spine. 2019 Jul;86(4):459-466. doi: 10.1016/j.jbspin.2018.10.001. Epub 2018 Oct 6. Joint Bone Spine. 2019. PMID: 30300686 Review.
Patients with hypercalciuria but no evidence of conditions such as granulomatous diseases should be evaluated for increased vitamin D sensitivity due to a CYP 4A1 mutation. Other very rare causes include hypophosphatasia due to ALPL mutations, which is characterized …
Patients with hypercalciuria but no evidence of conditions such as granulomatous diseases should be evaluated for increased vitamin D sensit …
Cell-free DNA Methylation and Transcriptomic Signature Prediction of Pregnancies with Adverse Outcomes.
Del Vecchio G, Li Q, Li W, Thamotharan S, Tosevska A, Morselli M, Sung K, Janzen C, Zhou X, Pellegrini M, Devaskar SU. Del Vecchio G, et al. Epigenetics. 2021 Jun;16(6):642-661. doi: 10.1080/15592294.2020.1816774. Epub 2020 Oct 13. Epigenetics. 2021. PMID: 33045922 Free PMC article.
We noticed the upregulation of S100A8, MS4A3, and MMP8 that have been already associated with APOs but also the upregulation of BCL2L15 and the downregulation of ALPL that have never been associated with APOs. We constructed a classifier with a positive predictive ability …
We noticed the upregulation of S100A8, MS4A3, and MMP8 that have been already associated with APOs but also the upregulation of BCL2L15 and …
Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment.
Bianchi ML, Bishop NJ, Guañabens N, Hofmann C, Jakob F, Roux C, Zillikens MC; Rare Bone Disease Action Group of the European Calcified Tissue Society. Bianchi ML, et al. Osteoporos Int. 2020 Aug;31(8):1445-1460. doi: 10.1007/s00198-020-05345-9. Epub 2020 Mar 11. Osteoporos Int. 2020. PMID: 32162014 Review.
This article provides an overview of the current knowledge on hypophosphatasia-a rare genetic disease of very variable presentation and severity-with a special focus on adolescents and adults. It summarizes the available information on the many known mutations of tissue …
This article provides an overview of the current knowledge on hypophosphatasia-a rare genetic disease of very variable presentation a …
Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults.
Li X, Ren N, Wang Z, Wang Y, Hu Y, Hu W, Gu J, Hong W, Zhang Z, Wang C. Li X, et al. Genes (Basel). 2023 Apr 16;14(4):922. doi: 10.3390/genes14040922. Genes (Basel). 2023. PMID: 37107680 Free PMC article.
Hypophosphatasia (HPP) is an inherited disease caused by ALPL mutation, resulting in decreased alkaline phosphatase (ALP) activity and damage to bone and tooth mineralization. ...The average serum ALP level was 29.1 (14-53) U/L and 94.7% (18/19) of pat …
Hypophosphatasia (HPP) is an inherited disease caused by ALPL mutation, resulting in decreased alkaline phosphatase …
Molecular and cellular basis of hypophosphatasia.
Komaru K, Ishida-Okumura Y, Numa-Kinjoh N, Hasegawa T, Oda K. Komaru K, et al. J Oral Biosci. 2019 Sep;61(3):141-148. doi: 10.1016/j.job.2019.07.003. Epub 2019 Aug 8. J Oral Biosci. 2019. PMID: 31400546 Review.
BACKGROUND: Hypophosphatasia (HPP) is an inherited disorder characterized by defective mineralization of the bone and teeth that is also associated with a deficiency of serum alkaline phosphatase (ALP). ...The broad clinical spectrum of HPP is attributed to v …
BACKGROUND: Hypophosphatasia (HPP) is an inherited disorder characterized by defective mineralization of the bone and teeth that is a …
153 results