Results 11 to 20 of about 7,210 (112)

The ALPL gene variant project: results of the first 100 reclassified variants. [PDF]

JBMR Plus
Abstract Hypophosphatasia (HPP) is an inherited disorder that affects bone and tooth mineralization, among other body systems. HPP is caused by pathogenic variants in the alkaline phosphatase-liver (ALPL) gene, which encodes tissue nonspecific alkaline phosphatase.
Farman MR, Malli T, Rehder C, Webersinke G, Rockman-Greenberg C, Dahir K, Martos-Moreno GÁ, Linglart A, Ozono K, Seefried L, Del Angel G, Barbazza F, Shojaei S, Ebner-Jahn J, Högler F, Nading EB, Huggins E, Rush ET, El-Gazzar A, Tauer JT, Kishnani PS, Högler W.   +21 more
europepmc   +5 more sources

The effect of ALPL gene polymorphism on the development of urolithiasis in the Turkish population

Urolithiasis, 2022
Urinary system stones have a complex pathophysiology affected by environmental and genetic factors. To confirm whether ALPL gene polymorphisms are an effective universal risk factor for the development of urolithiasis, we aimed to investigate ALPL gene polymorphism in Turkish population. Our study was carried out with 187 patients with urolithiasis and
Burcu Genc Yavuz, Şahin Colak, Ibrahim ALTUNDAĞ   +2 more
exaly   +4 more sources

Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia. [PDF]

Clin Case Rep, 2020
AbstractThe lack of awareness of patient risk factors, failure to obtain adequate family history, was discussed by clinical experience in prenatal testing of hypophosphatasia with a novel variant in the ALPL gene identified in the index case of the family.
Bisgin A, Boga I, Cetin C, Buyukkurt S.
europepmc   +5 more sources

Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia

Taiwanese Journal of Obstetrics and Gynecology, 2022
One multiparity women had recurrent pregnancies of skeletal dysplasia. The karyotype and array-comparative genomic hybridization were unremarkable. Thus, trio whole exome sequencings were suggested.The ALPL gene mutations were identified. Maternal heterozygous deletion on Chr1: 21880592 (GRCh37) TA->T, paternal heterozygous insertion on Chr1 21894597 ...
Chia-Lung Tsai, Yao-Lung Chang, Shu-Han You   +2 more
exaly   +4 more sources

A compound heterozygous mutation of the alkaline phosphatase ALPL gene causes hypophosphatasia in a Han Chinese family. [PDF]

Exp Ther Med, 2020
Hypophosphatasia (HPP) is a rare hereditary systemic disease that is characterized by defective bone and/or dental mineralization, and is caused by mutations in the alkaline phosphatase gene (ALPL). The present study investigated the ALPL mutation in a Chinese Han family with HPP and studied the pathogenesis of the mutations of the ALPL gene.
Huang H, Wang J, Liang Y, Wei X, Guo D, Sun H, Zhang X, Xu X, Xiong F.   +8 more
europepmc   +4 more sources

7154 Adult Hypophosphatasia With Heterozygous Missense Mutations In ALPL Gene [PDF]

J Endocr Soc
Abstract Disclosure: A.S. Chaugule: None. Y. Cervelo: None. S. Dhillon: None. D. Tuncay: None. We present a case of a male in his third decade of life discovered to be a carrier of the genetic mutation associated with hypophosphatasia during routine pre-conception genetic screening. Genetic analysis revealed a heterozygous
Chaugule, Akshata S, Cervelo, Yeset, Dhillon, Shabnam, Tuncay, Delibasi   +3 more
europepmc   +2 more sources

Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene. [PDF]

J Clin Res Pediatr Endocrinol, 2016
Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene. It is characterized by defective bone and tooth mineralisation associated with low serum and bone alkaline phosphatase activity. The clinical presentation of this disease is extremely variable. For this reason,
Güzel Nur B, Çelmeli G, Manguoğlu E, Soyucen E, Bircan İ, Mıhçı E.   +5 more
europepmc   +3 more sources

Comprehensive treatment approaches for skeletal deformities in hypophosphatasia: a case study of <i>ALPL</i> gene variants. [PDF]

Front Pediatr
This study presents a case report of an 11-year-old boy with hypophosphatasia due to compound heterozygous ALPL gene genetic variants, focusing on the treatment effects of comprehensive approaches for this rare genetic disorder. The patient's diagnosis was established based on respiratory distress and cough, accompanied by anterior chest wall ...
Jiao Q, Ma G, Ni Q.
europepmc   +4 more sources

Yin Yang 1 Specifically Supports the Development of Olig2 Positive Cerebellar Astrocytes. [PDF]

Glia
Cerebellar Olig2 positive astrocytes are most abundant in the cerebellar nuclei. Cerebellar astrocytes expressing Olig2 have unique gene expression profiles. Yin Yang 1 specifically supports the development of astrocytes expressing Olig2. Deletion of YY1 during development increases numbers of astrocytes expressing Olig2 but hinders their ...
Zarei-Kheirabadi M, Tyc KM, Dain L, Kheirabadi MA, Hanco J, Mockenhaupt K, Munir S, McQuiston A, Singh SK, Kordula T.   +9 more
europepmc   +2 more sources

Hypophosphatasia: 90 Years from a Canadian Discovery-A Comprehensive Review of the <i>ALPL</i> Gene Underlying Rathbun's Syndrome. [PDF]

Genes (Basel)
Hypophosphatasia (HPP) is an exceptional genetic bone disorder of metabolic character caused by a deficit of the tissue-nonspecific alkaline phosphatase isoenzyme (TNSALP). This protein is encoded by the ALPL (alkaline phosphatase liver/bone/kidney) gene.
Sergi CM.
europepmc   +4 more sources