Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. - Wikidata - awgldk - TriplyDB

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

http://www.wikidata.org/entity/Q42681575

about

Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications Cracking the Molecular Origin of Intrinsic Tyrosine Kinase Activity through Analysis of Pathogenic Gain-of-Function Mutations Structural Mimicry of A-Loop Tyrosine Phosphorylation by a Pathogenic FGF Receptor 3 Mutation Some chondrodysplasias with short limbs: molecular perspectives Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation FGFR3 signaling induces a reversible senescence phenotype in chondrocytes similar to oncogene-induced premature senescence Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia.Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor.FGFs, their receptors, and human limb malformations: clinical and molecular correlations.Genetic inactivation of ERK1 and ERK2 in chondrocytes promotes bone growth and enlarges the spinal canal Thanatophoric Dysplasia: A Case Report Fibroblast growth factor receptor 3 mutations in bladder tumors correlate with low frequency of chromosome alterations.Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD.FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia.An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study.Autopsy case of thanatophoric dysplasia: observations on the serial sections of the brain.Thanatophoric dysplasia: autopsy findings over a 25-year period.Thanatophoric dysplasia type I with syndactyly.Lethal osteosclerotic osteochondrodysplasia with platyspondyly, metaphyseal widening, and intracellular inclusions in sibs.Fibroblast growth factors 1, 2, 17, and 19 are the predominant FGF ligands expressed in human fetal growth plate cartilage.Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome.Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound.Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis.Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia.Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes

P2860

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P2860

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

http://www.wikidata.org/entity/Q42681575

description

1998 nî lūn-bûn

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1998年の論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年论文

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1998年论文

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1998年论文

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name

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

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Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

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type

label

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

@en

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

@nl

prefLabel

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

@en

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

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American Journal of Medical Genetics Part A

P1476

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

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P2093

Kitoh H

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Krakow D

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Lachman RS

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P2860

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.

Long-term survival in typical thanatophoric dysplasia type 1.

Craniosynostosis: genes and mechanisms.

Thanatophoric dysplasia with cloverleaf-skull. Case report and review of the literature.

Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene.

Abnormal ossification in thanatophoric dysplasia.

Neuropathologic findings in thanatophoric dysplasia.

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