Results 141 to 150 of about 10,706 (212)

PCR detection of a Bc/l RFLP in the human ALPL gene

open access: yesNucleic Acids Research, 1991
T, Okuyama   +3 more
openaire   +3 more sources

Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase. [PDF]

open access: yesJ Bone Miner Res, 2020
Alonso N   +9 more
europepmc   +1 more source

Regulation of osteoblast development by Bcl-2-associated athanogene-1 (BAG-1)

open access: yes
BCL-2-associated athanogene-1 (BAG-1) is expressed by osteoblast-lineage cells; early embryonic lethality in Bag-1 null mice, however, has limited the investigation of BAG-1 function in osteoblast development.
Cutress, Ramsey   +5 more
core   +1 more source

Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene. [PDF]

open access: yesSci Rep, 2019
García-Fontana C   +9 more
europepmc   +1 more source

The effect of exposure to nanoparticles and nanomaterials on the mammalian epigenome [PDF]

open access: yes, 2016
Fernández Fernández, Agustín   +4 more
core   +1 more source

Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family

open access: yesNovel mutation in the ALPL gene with a dominant negative effect in a Japanese family
Introduction Hypophosphatasia (HPP) is caused by mutations in the ALPL gene encoding tissue nonspecific alkaline phosphatase (TNSALP) and inherited in either an autosomal recessive or autosomal dominant manner. It is characterized clinically by defective mineralization of bone, dental problems, and low serum ALP levels.
openaire  

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