Results 61 to 70 of about 7,210 (112)

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

Novel 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  

P494: An analysis of ALPL gene variants in patients with hypophosphatasia from the Global Hypophosphatasia Registry

Genetics in Medicine Open, 2023
Priya Kishnani, Kathryn Dahir, Gabriel Martos-Moreno, Agnès Linglart, Anna Petryk, William Mowrey, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Wolfgang Högler, Lothar Seefried   +10 more
openaire   +2 more sources

<i>ALPL</i> Mutations With Dominant-Negative Effect in Infantile Hypophosphatasia Monozygotic Twins. [PDF]

Hum Mutat
Hao L, Huang N, Tao Y, Li H, Zhuang J, Li X, Hao Z, Zhao F.   +7 more
europepmc   +1 more source

Hypophosphatasia: low penetrance of pathogenic and likely-pathogenic ALPL variants identified through an unselected biorepository. [PDF]

J Bone Miner Res
Dahir KM, Below JE, Liu J, Javid A, Wang G, Bastarache L.   +5 more
europepmc   +1 more source

Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework. [PDF]

J Bone Miner Res
Webb RF, McCurry H, Girod A, Hughes M, Wilcox E, Patel M, Broeren EC, Tshering KC, DiStefano M, Botto LD, Burrage LC, Cormier-Daire V, Dong J, Ehmke N, Krakow D, Moosa S, Mortier G, Nagamani S, Pena L, Sanchez-Lara PA, Superti-Furga A, Unger S, Velasco D, Warman ML, Brown K, D'Cunha Burkardt D, Ferreira CR, ClinGen Skeletal Disorders Gene Curation Expert Panel.   +27 more
europepmc   +1 more source

Construction and validation of a diagnostic model for Kawasaki disease based on neutrophil-related genes and analysis of immune infiltration. [PDF]

Transl Pediatr
Chen J, Zhang H.
europepmc   +1 more source

Molecular Insights into the Synergistic Effect of Nano-Hydroxyapatite and <i>L-PRF</i> on Osteoporotic Osseointegration: An In Vivo Gene Expression Study. [PDF]

J Funct Biomater
Barbosa ACL, Júnior JAG, da Silva LECM, Nóbrega F, Bergamo ETP, Ghiraldini B, E Pessoa RS, Messora MR, Souza SS.   +8 more
europepmc   +1 more source

Intrafamilial phenotypic variability in hypophosphatasia: evidence from two families and the literature. [PDF]

Front Endocrinol (Lausanne)
Sala E, Lanzafame R, Maruca K, Mora S, Pitea M.   +4 more
europepmc   +1 more source

Hypophosphatasia-pathophysiological understanding, preclinical data looking beyond the skeleton, and upcoming treatments. [PDF]

J Bone Miner Res
Millán JL.
europepmc   +1 more source

Osteogenesis Imperfecta Type 4 With COL1A2 c.1135G>A (p.Gly379Arg) Variant: Unmodified by Concurrent ALPL c.1559delT (p.Leu520ArgfsTer86) Carrier Status: A Case Report. [PDF]

Cureus
Nomura K, Oda Y, Yamaguchi S, Ito T, Namai Y.   +4 more
europepmc   +1 more source