Chromosomal localization of three human genes encoding members of the TGF-β superfamily of type I serine/threonine kinase receptors

@article{Rijer1998ChromosomalLO,
  title={Chromosomal localization of three human genes encoding members of the TGF-$\beta$ superfamily of type I serine/threonine kinase receptors},
  author={Eva R{\"o}ijer and Kohei Miyazono and Anna-Karin {\AA}str{\"o}m and Ad Geurts van Kessel and Peter ten Dijke and G{\"o}ran Stenman},
  journal={Mammalian Genome},
  year={1998},
  volume={9},
  pages={266-268}
}
[2,6]. Two other homologs with about 80% amino acid identity to these pancreatic ribonucleases have been found in different bovine tissues: a seminal ribonuclease, which, unlike all other enzymes of the mammalian ribonuclease superfamily, is a homodimer whose chains are linked by two disulfide bonds [6]; and a brain ribonuclease, which, unlike the pancreatic and seminal homologs, has a carboxy-terminal extension with 0-linked oligosaccharide chains [6]. The genes encoding these enzymes were… 

ACVR1 Function in Health and Disease

Activin A receptor type I (ACVR1) encodes for a bone morphogenetic protein type I receptor of the TGFβ receptor superfamily. It is involved in a wide variety of biological processes, including bone,

Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis

Fibrodysplasia ossificans progressiva (FOP) is an ultrarare genetic condition characterized by extraskeletal bone formation. Most of the musculoskeletal characteristics of FOP are related to

РЕДКИЙ ВАРИАНТ НАСЛЕДСТВЕННОЙ ФОРМЫ ОССИФИЦИРУЮЩЕГО МИОЗИТА В КЛИНИЧЕСКОЙ ПРАКТИКЕ ОНКОЛОГА

A case of FOP is reported in the 9-year-old girl admitted to the clinic with swelling of the scapula and neck with a supposed diagnosis of mesenchymoma, and a rare germline mutation in the ACVR1 gene was the decisive factor in confirming the diagnosis of the initial manifestation of Fop.

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