syndactyly/tyrosine

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A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.

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Logáil Isteach / Cláraigh

Mutations in ROR2, encoding the receptor tyrosine kinase-like orphan receptor 2, cause two distinct skeletal diseases: autosomal dominant brachydactyly type B1 (BDB1) and autosomal recessive Robinow syndrome. In a large Chinese family with a limb phenotype, consisting of atypical BDB1 and cutaneous

Differential regulation of endochondral bone growth and joint development by FGFR1 and FGFR3 tyrosine kinase domains.

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Logáil Isteach / Cláraigh

Fibroblast growth factor receptors (FGFR) 1 and 3 have distinct mitogenic activities in vitro. In several cultured cell lines, FGFR1 transmits a potent mitogenic signal, whereas FGFR3 has little or no mitogenic activity. However, in other in vitro assays the FGFR3 intracellular domain is comparable

FGFs, their receptors, and human limb malformations: clinical and molecular correlations.

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Logáil Isteach / Cláraigh

Fibroblast growth factors (FGFs) comprise a family of 22 distinct proteins with pleiotropic signaling functions in development and homeostasis. These functions are mediated principally by four fibroblast growth factor receptors (FGFRs), members of the receptor tyrosine kinase family, with heparin

[Transitory neonatal diabetes].

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Logáil Isteach / Cláraigh

Transitory neonatal diabetes mellitus is a rare carbohydrate metabolism disorder that usually occurs between the ages of 2 days and 6 months. We report the case of an asymptomatic newborn treated with NPH insulin, in whom genetic study revealed an alteration associated with neonatal diabetes. The

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

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Logáil Isteach / Cláraigh

Brachydactyly type B (BDB) is characterized by terminal deficiency of fingers and toes, which is caused by heterozygous truncating mutations in the receptor tyrosine kinase-like orphan receptor 2 (ROR2) in the majority of patients. In a subset of ROR2-negative patients with BDB, clinically defined

Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.

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Logáil Isteach / Cláraigh

Autosomal recessive Robinow syndrome (OMIM 268310) is a condition caused by mutations in the ROR2 gene, the receptor tyrosine kinase-like orphan receptor 2. The main characteristic features are: a face resembling that of a fetus, cleft lip and palate, mesomelic limb shortening, a micropenis in

Sprouty2 and Sprouty4 are essential for embryonic morphogenesis and regulation of FGF signaling.

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Logáil Isteach / Cláraigh

Sprouty genes encode cytoplasmic membrane-associated proteins that inhibit receptor tyrosine kinase signaling. Four orthologs of Drosophila Sprouty (dSpry) (Sprouty1-4) have been identified in mammals. Physiological function of Sprouty1 and Sprouty2 has been investigated using gene targeting

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Herbal & Natural Medicine

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