Results 1 to 10 of about 7,210 (112)

A novel missense mutation in the ALPL gene causes dysfunction of the protein [PDF]

Molecular Medicine Reports, 2017
Hypophosphatasia (HP) is a rare genetic disease caused by mutation in the alkaline phosphatase, liver/bone/kidney (ALPL) gene with highly variable clinical manifestations. Efforts have been made to collect cases with novel mutations and to examine how a missense mutation affects ALPL protein function, which remains difficult to predict.
Weitong Ren, Yaping Wang
exaly   +5 more sources

Six ALPL gene variants in five children with hypophosphatasia. [PDF]

Ann Transl Med, 2021
Hypophosphatasia (HPP) is a rare hereditary disorder characterized by defective bone and tooth mineralization caused by mutations in the alkaline phosphatase (ALPL) gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Here we performed clinical and molecular studies on 5 HPP children to investigate the pathogenic mechanisms of the ALPL gene ...
Su N, Zhu M, Cheng X, Xu K, Kocijan R, Zhang H.   +5 more
europepmc   +4 more sources

Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia. [PDF]

Front Genet, 2021
Background: Hypophosphatasia (HPP) is an autosomal genetic disorder characterized biochemically by abnormal of bone parameters and serum alkaline phosphatase (ALP) activity as well as clinically by deficiency of teeth and bone mineralization. The clinical presentation is a continuum ranging from a prenatal lethal form with no skeletal mineralization to
Zhang Q, Qin Z, Yi S, Wei H, Zhou XZ, Shen F.   +5 more
europepmc   +5 more sources

Systemic effects of hypophosphatasia characterization of two novel variants in the <i>ALPL</i> gene. [PDF]

Front Endocrinol (Lausanne), 2023
IntroductionHypophosphatasia (HPP) is an inborn metabolic error caused by mutations in the ALPL gene encoding tissue non-specific alkaline phosphatase (TNSALP) and leading to decreased alkaline phosphatase (ALP) activity. Although the main characteristic of this disease is bone involvement, it presents a great genetic and clinical variability, which ...
Martínez-Heredia L, Muñoz-Torres M, Sanabria-de la Torre R, Jiménez-Ortas Á, Andújar-Vera F, González-Cejudo T, Contreras-Bolívar V, González-Salvatierra S, Gómez-Vida JM, García-Fontana C, García-Fontana B.   +10 more
europepmc   +6 more sources

THU459 Hypophosphatasia With Normal ALPL Gene Test; A Case Report [PDF]

J Endocr Soc, 2023
Abstract Disclosure: K. Alkwatli: None. L.Z. Khan: None. Introduction: Hypophosphatasia is a rare hereditary disorder caused by loss of tissue nonspecific alkaline phosphatase activity, an essential enzyme in phosphate metabolism. Severe cases present perinatally and in early childhood.
Alkwatli, Kenda, Khan, Leila Zeinab
europepmc   +2 more sources

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

Journal of Bone and Mineral Metabolism, 2021
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. In the current report, we demonstrate a novel
Tatsuya Atsumi, Tomohiro Shimizu, Takuya Asaka   +2 more
exaly   +4 more sources

Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia. [PDF]

Front Endocrinol (Lausanne), 2022
Hypophosphatasia (HPP) a rare disease caused by mutations in the ALPL gene encoding for the tissue-nonspecific alkaline phosphatase protein (TNSALP), has been identified as a potentially under-diagnosed condition worldwide which may have higher prevalence than currently established. This is largely due to the overlapping of its symptomatology with that
Sanabria-de la Torre R, Martínez-Heredia L, González-Salvatierra S, Andújar-Vera F, Iglesias-Baena I, Villa-Suárez JM, Contreras-Bolívar V, Corbacho-Soto M, Martínez-Navajas G, Real PJ, García-Fontana C, Muñoz-Torres M, García-Fontana B.   +12 more
europepmc   +6 more sources

Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations. [PDF]

Front Endocrinol (Lausanne), 2022
BackgroundLow serum alkaline phosphatase levels are the hallmark of hypophosphatasia, a disorder due to pathogenic variants of the ALPL gene. However, some patients do not carry ALPL variants and the cause of low alkaline phosphatase remains unknown.
Santurtún M, Mediavilla-Martinez E, Vega AI, Gallego N, Heath KE, Tenorio JA, Lapunzina P, Riancho-Zarrabeitia L, Riancho JA.   +8 more
europepmc   +7 more sources

Different Dental Manifestations in Sisters with the Same ALPL Gene Mutation: A Report of Two Cases. [PDF]

Children (Basel), 2022
Hypophosphatasia (HPP) is an inherited disease caused by mutation of the alkaline phosphatase (ALPL) gene in an autosomal dominant or an autosomal recessive manner. The main symptoms of HPP are bone hypomineralization and early exfoliation of the primary teeth.
Kadota T, Ochiai M, Okawa R, Nakano K.
europepmc   +4 more sources

Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene [PDF]

Human Mutation, 2003
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series of 11 families from various origins affected by perinatal and infantile hypophosphatasia.
Spentchian, M, Merrien, Y, Herasse, M, Dobbie, Z, Glaser, D, Holder, SE, Ivarsson, SA, Kostiner, D, Mansour, S, Norman, A, Roth, J, Stipoljev, Feodora, Taillemite, JL, van der Smagt, JJ, Serre, JL, Simon-Bouy, B, Taillandier, A, Mornet, E.   +17 more
exaly   +4 more sources