Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia
about
HypophosphatasiaHypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase geneMolecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasiaNovel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.Molecular-pathogenetic classification of genetic disorders of the skeleton.Improvement of the skeletal and dental hypophosphatasia phenotype in Alpl-/- mice by administration of soluble (non-targeted) chimeric alkaline phosphatase.Correction of hypophosphatasia-associated mineralization deficiencies in vitro by phosphate/pyrophosphate modulation in periodontal ligament cells.Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153-->Asp substitution, a cause of perinatal hypophosphatasia.Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia.Hypophosphatasia - pathophysiology and treatment.A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.Adult hypophosphatasia with painful periarticular calcification treated with surgical resection.Restoration of cellular function of mesenchymal stem cells from a hypophosphatasia patient.Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients.Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability.Early Tooth Loss in Children: A Warning Sign of Childhood Hypophosphatasia.Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth.Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
P2860
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P2860
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia
description
1998 nî lūn-bûn
@nan
1998 թուականին հրատարակուած գիտական յօդուած
@hyw
1998 թվականին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Identification of fifteen nove ...... s with severe hypophosphatasia
@ast
Identification of fifteen nove ...... s with severe hypophosphatasia
@en
Identification of fifteen nove ...... s with severe hypophosphatasia
@en-gb
Identification of fifteen nove ...... s with severe hypophosphatasia
@nl
type
label
Identification of fifteen nove ...... s with severe hypophosphatasia
@ast
Identification of fifteen nove ...... s with severe hypophosphatasia
@en
Identification of fifteen nove ...... s with severe hypophosphatasia
@en-gb
Identification of fifteen nove ...... s with severe hypophosphatasia
@nl
prefLabel
Identification of fifteen nove ...... s with severe hypophosphatasia
@ast
Identification of fifteen nove ...... s with severe hypophosphatasia
@en
Identification of fifteen nove ...... s with severe hypophosphatasia
@en-gb
Identification of fifteen nove ...... s with severe hypophosphatasia
@nl
P2093
P921
P356
P1476
Identification of fifteen nove ...... s with severe hypophosphatasia
@en
P2093
A Superti-Furga
A Taillandier
B Simon-Bouy
P2888
P304
P356
10.1038/SJ.EJHG.5200190
P407
P577
1998-01-01T00:00:00Z
P5875
P6179
1040178992