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Hypophosphatasia

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https://www.readbyqxmd.com/read/28072448/identification-of-altered-brain-metabolites-associated-with-tnap-activity-in-a-mouse-model-of-hypophosphatasia-using-untargeted-nmr-based-metabolomics-analysis
#1
Thomas Cruz, Marie Gleizes, Stéphane Balayssac, Etienne Mornet, Grégory Marsal, José Luis Millán, Myriam Malet-Martino, Lionel G Nowak, Véronique Gilard, Caroline Fonta
Tissue Nonspecific Alkaline Phosphatase (TNAP) is a key player of bone mineralization and TNAP gene (ALPL) mutations in human are responsible for hypophosphatasia (HPP), a rare heritable disease affecting the mineralization of bones and teeth. Moreover, TNAP is also expressed by brain cells and the severe forms of HPP are associated with neurological disorders, including epilepsy and brain morphological anomalies. However TNAP's role in the nervous system remains poorly understood. In order to investigate its neuronal functions, we aimed to identify without any a priori the metabolites regulated by TNAP in the nervous tissue...
January 10, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28000043/molecular-defect-of-tissue-nonspecific-alkaline-phosphatase-bearing-a-substitution-at-position-426-associated-with-hypophosphatasia
#2
Hiba A Al-Shawafi, Keiichi Komaru, Kimimitsu Oda
Mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP) cause hypophosphatasia (HPP), a genetic disorder characterized by deficiency of serum ALP and hypomineralization of bone and teeth. Three missense mutations for glycine 426 (by standard nomenclature) of TNSALP have been reported: cysteine (p.G426C), serine (p.G426S), and aspartate (p.G426D). We expressed TNSALP mutants carrying each missense mutation in mammalian cells. All three TNSALP mutants appeared on the cell surface like the wild-type (WT) TNSALP, although the cells expressing each TNSALP mutant exhibited markedly reduced ALP activity...
December 20, 2016: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/27998428/-mutation-analysis-for-two-hypophosphatasia-families-with-targeted-next-generation-sequencing
#3
Y Bai, N Liu, J Yang, Y Guo, X D Kong
Objective: To detect the mutations in alkaline phosphatase (ALPL) gene of two Chinese families with perinatal hypophosphatasia (HPP), in order to explore the mechanism of this condition. Methods: Next-generation sequencing (NGS) of osteology system panel was carried out for exome sequencing in the mothers of 2 HPP fetuses, who visited Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University. Further polymerase chain reaction (PCR) and Sanger sequencing validation was performed in the parents, affected fetuses and 200 unrelated healthy individuals to verify the mutation sites...
December 13, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/27994097/recognizing-the-clinical-triad-and-dural-calcification-in-adult-hypophosphatasia
#4
Li-Ching Chew, ChiWai Tong, Carl Bryant, Frederick Joshua
No abstract text is available yet for this article.
December 19, 2016: Rheumatology
https://www.readbyqxmd.com/read/27920814/low-energy-trauma-induced-intercondylar-femoral-fracture
#5
Mathias Aeby, Tobias Wyss, Birgit Mentrup, Erdmute Kunstmann, Franz Jakob, Daniel Aeberli
We present a 44-year-old female patient with recurrent fragility fractures including an intercondylar femoral fracture and with normal planar bone densitometry. Diagnosis of hypophosphatasia was suggested by low volumetric cortical bone mineral density and laboratory findings. DNA sequencing revealed heterozygous mutations in the exons 5, 6 and 9 of the ALPL gene, thus confirming the suspected diagnosis.
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27847653/nondestructive-microcomputed-tomography-evaluation-of-mineral-density-in-exfoliated-teeth-with-hypophosphatasia
#6
Sachiko Hayashi-Sakai, Takafumi Hayashi, Makoto Sakamoto, Jun Sakai, Junko Shimomura-Kuroki, Hideyoshi Nishiyama, Kouji Katsura, Makiko Ike, Yutaka Nikkuni, Miwa Nakayama, Marie Soga, Taichi Kobayashi
Most cases of hypophosphatasia (HPP) exhibit early loss of primary teeth. Results of microcomputed tomography (micro-CT) analysis of teeth with HPP have rarely been reported. The purpose of the present study was to describe the mineral density distribution and mapping of exfoliated teeth from an HPP patient using micro-CT. Four exfoliated teeth were obtained from a patient with HPP. Enamel and dentin mineral densities of exfoliated teeth were measured on micro-CT. The mean values of enamel and dentin mineral densities in mandibular primary central incisors with HPP were 1...
2016: Case Reports in Dentistry
https://www.readbyqxmd.com/read/27805893/hypophosphatasia-evaluation-of-size-and-mineral-density-of-exfoliated-teeth
#7
S Hayashi-Sakai, N Numa-Kinjoh, M Sakamoto, J Sakai, J Matsuyama, T Mitomi, T Sano-Asahito, S Kinoshita-Kawano
OBJECTIVE: Most cases of hypophosphatasia (HPP) exhibit early loss of primary teeth. Results of micro-computed tomography (micro-CT) analysis of teeth with HPP have not yet been reported. The purpose of the present study was to describe the size and mineral density distribution and mapping of exfoliated teeth with HPP using micro CT. STUDY DESIGN: Seven exfoliated teeth were obtained from a patient with HPP. Exfoliated teeth sizes were measured on micro CT images and mineral densities of the mandibular primary central incisors were determined...
2016: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/27796472/-hypophosphatasia-what-is-currently-available-for-treatment
#8
T Schmidt, M Amling, F Barvencik
This review presents the current knowledge on the diagnosis and treatment of hypophosphatasia, a rare genetic disease, caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene. The clinical spectrum of hypophosphatasia is highly variable ranging from lethal infantile forms to mild forms diagnosed in adults. Although the disease rarely occurs, correct diagnosis is important to provide appropriate treatment and to avoid worsening by use of harmful drugs such as bisphosphonates. Low serum values of alkaline phosphatase (ALP) is the main feature of HPP, but by itself not sufficient for diagnosis, as it can occur under different conditions...
December 2016: Der Internist
https://www.readbyqxmd.com/read/27780282/clinical-images-a-cloudy-skull-hypophosphatasia-as-reason-for-copper-beaten-skull
#9
Martin Poryo, Sascha Meyer, Regina Eymann, Umut Yilmaz, Sogand Nemat, Tilman Rohrer
No abstract text is available yet for this article.
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27777120/a-homozygous-intronic-branch-point-deletion-in-the-alpl-gene-causes-infantile-hypophosphatasia
#10
Birgit Mentrup, Hermann Girschick, Franz Jakob, Christine Hofmann
Hypophosphatasia (HPP) is a multi-systemic inborn disease with an extraordinary spectrum of severity, ranging from the absence of mineralization to high lethality and it involves different organs including bone, muscle, kidney, lung, gastrointestinal tract and the nervous system. The disease is characterized by low levels of serum alkaline phosphatase, caused by loss-of-function mutations within the ALPL gene that encodes the tissue-nonspecific alkaline phosphatase TNAP. Here we present the functional characterization of a gene mutation, detected in intron 7 of the ALPL gene of a boy with infantile HPP in whom routine sequencing of the coding region failed to detect any mutation...
January 2017: Bone
https://www.readbyqxmd.com/read/27726750/imaging-findings-of-metabolic-bone-disease
#11
Connie Y Chang, Daniel I Rosenthal, Deborah M Mitchell, Atsuhiko Handa, Susan V Kattapuram, Ambrose J Huang
Metabolic bone diseases are a diverse group of diseases that result in abnormalities of (a) bone mass, (b) structure mineral homeostasis, (c) bone turnover, or (d) growth. Osteoporosis, the most common metabolic bone disease, results in generalized loss of bone mass and deterioration in the bone microarchitecture. Impaired chondrocyte development and failure to mineralize growth plate cartilage in rickets lead to widened growth plates and frayed metaphyses at sites of greatest growth. Osteomalacia is the result of impaired mineralization of newly formed osteoid, which leads to characteristic Looser zones...
October 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27704676/the-editor-recommends-this-issue-s-article-to-the-reader-hypophosphatasia-diagnosis-and-clinical-signs-a-dental-surgeon-perspective
#12
EDITORIAL
(no author information available yet)
No abstract text is available yet for this article.
November 2016: International Journal of Paediatric Dentistry
https://www.readbyqxmd.com/read/27699270/asfotase-alfa-therapy-for-children-with-hypophosphatasia
#13
Michael P Whyte, Katherine L Madson, Dawn Phillips, Amy L Reeves, William H McAlister, Amy Yakimoski, Karen E Mack, Kim Hamilton, Kori Kagan, Kenji P Fujita, David D Thompson, Scott Moseley, Tatjana Odrljin, Cheryl Rockman-Greenberg
Background. Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Consequently, cell-surface deficiency of TNSALP phosphohydrolase activity leads to extracellular accumulation of inorganic pyrophosphate, a natural substrate of TNSALP and inhibitor of mineralization. Children with HPP can manifest rickets, skeletal pain, deformity, fracture, muscle weakness, and premature deciduous tooth loss. Asfotase alfa is a recombinant, bone-targeted, human TNSALP injected s...
June 16, 2016: JCI Insight
https://www.readbyqxmd.com/read/27621187/burden-of-disease-in-adult-patients-with-hypophosphatasia-results-from-two-patient-reported-surveys
#14
Thomas J Weber, Eileen K Sawyer, Scott Moseley, Tatjana Odrljin, Priya S Kishnani
BACKGROUND: Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutation(s) in the tissue-nonspecific alkaline (TNSALP) phosphatase gene, which manifests as rickets and/or osteomalacia with systemic complications and affects patients of all ages. The burden of disease is poorly characterized in adult patients. AIMS: We assessed patient-reported burden of disease using two surveys reasonably specific for HPP symptomatology, the Hypophosphatasia Impact Patient Survey (HIPS) and the Hypophosphatasia Outcomes Study Telephone interview (HOST)...
October 2016: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/27589035/isonicotinohydrazones-as-inhibitors-of-alkaline-phosphatase-and-ecto-5-nucleotidase
#15
Pervaiz Ali Channar, Syed Jawad Ali Shah, Sidra Hassan, Zaib Un Nisa, Joanna Lecka, Jean Sévigny, Jürgen Bajorath, Aamer Saeed, Jamshed Iqbal
A series of isonicotinohydrazides derivatives were synthesized and tested against recombinant human and rat ecto-5'-nucleotidases (h-e5'NT & r-e5'NT) and alkaline phosphatase isozymes including both bovine tissue-nonspecific alkaline phosphatase (b-TNAP) and tissue specific calf intestinal alkaline phosphatase (c-IAP). These enzymes are implicated in vascular calcifications, hypophosphatasia, solid tumors and cancers, such as colon, lung, breast, pancreas and ovary. All tested compounds were active against both enzymes...
September 2, 2016: Chemical Biology & Drug Design
https://www.readbyqxmd.com/read/27582029/conditional-alpl-ablation-phenocopies-dental-defects-of-hypophosphatasia
#16
B L Foster, P Kuss, M C Yadav, T N Kolli, S Narisawa, L Lukashova, E Cory, R L Sah, M J Somerman, J L Millán
Loss-of-function mutations in ALPL result in hypophosphatasia (HPP), an inborn error of metabolism that causes defective skeletal and dental mineralization. ALPL encodes tissue-nonspecific alkaline phosphatase, an enzyme expressed in bone, teeth, liver, and kidney that hydrolyzes the mineralization inhibitor inorganic pyrophosphate. As Alpl-null mice die before weaning, we aimed to generate mouse models of late-onset HPP with extended life spans by engineering a floxed Alpl allele, allowing for conditional gene ablation (conditional knockout [cKO]) when crossed with Cre recombinase transgenic mice...
January 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/27576207/hypophosphatasia-natural-history-study-of-101-affected-children-investigated-at-one-research-center
#17
Michael P Whyte, Deborah Wenkert, Fan Zhang
Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Resultant extracellular accumulation of inorganic pyrophosphate, a TNSALP substrate and potent inhibitor of mineralization, typically leads to tooth loss and sometimes to rickets or osteomalacia. HPP's remarkably broad-ranging severity is largely explained by autosomal dominant versus autosomal recessive transmission from among several hundred usually missense mutations positioned throughout the gene that encodes TNSALP...
December 2016: Bone
https://www.readbyqxmd.com/read/27561677/gene-therapy-improves-dental-manifestations-in-hypophosphatasia-model-mice
#18
R Okawa, O Iijima, M Kishino, H Okawa, S Toyosawa, H Sugano-Tajima, T Shimada, T Okada, K Ozono, T Ooshima, K Nakano
BACKGROUND AND OBJECTIVE: Hypophosphatasia is a rare inherited skeletal disorder characterized by defective bone mineralization and deficiency of tissue non-specific alkaline phosphatase (TNSALP) activity. The disease is caused by mutations in the liver/bone/kidney alkaline phosphatase gene (ALPL) encoding TNSALP. Early exfoliation of primary teeth owing to disturbed cementum formation, periodontal ligament weakness and alveolar bone resorption are major complications encountered in oral findings, and discovery of early loss of primary teeth in a dental examination often leads to early diagnosis of hypophosphatasia...
August 26, 2016: Journal of Periodontal Research
https://www.readbyqxmd.com/read/27535253/tendons-involvement-in-congenital-metabolic-disorders
#19
Michele Abate, Vincenzo Salini, Isabel Andia
Congenital metabolic disorders are consequence of defects involving single genes that code for enzymes. Blocking metabolic pathways, the defect leads to the shortage of essential compounds, and/or to the accumulation of huge quantities of precursors, which interfere with normal functions. Only few of these diseases are characterized by a clinically significant tendon involvement.Heterozygous Familial Hypercholesterolaemia results from the inheritance of a mutant low-density lipoprotein receptor gene; patients show high cholesterol levels, precocious coronary artery disease, and may develop tendon xanthomata (mainly in Achilles tendon)...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27531358/current-concepts-in-odontohypophosphatasia-form-of-hypophosphatasia-and-report-of-two-cases
#20
Zhu-Yu Wang, Kai Zhang, Guang-Sen Zheng, Wei Qiao, Yu-Xiong Su
BACKGROUND: Hypophosphatasia is a rare inherited disease derived from mutations in tissue non-specific alkaline phosphatase genes, with typical oral symptoms including short root anomaly and dysplasia of dentin or cementum. CASE PRESENTATION: Two young female patients presented with short root anomaly with a history of premature loss of deciduous and/or permanent teeth. The laboratory and imaging investigations were performed. One case was diagnosed as odontohypophosphatasia concurrent with hyperthyroidism, the other was odontohypophosphatasia concurrent with multiple radicular cysts...
August 17, 2016: BMC Oral Health
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