Mutations in different components of FGF signaling in LADD syndrome. - Wikidata - wikimedia - TriplyDB

Mutations in different components of FGF signaling in LADD syndrome.

Mutations in different components of FGF signaling in LADD syndrome.

http://www.wikidata.org/entity/Q39746901

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FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG)Asymmetric receptor contact is required for tyrosine autophosphorylation of fibroblast growth factor receptor in living cells An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1 Cell signaling by receptor tyrosine kinases A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia Alveologenesis: key cellular players and fibroblast growth factor 10 signaling Fgf10 is required for specification of non-sensory regions of the cochlear epithelium.Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation MicroRNA-17-92, a direct Ap-2α transcriptional target, modulates T-box factor activity in orofacial clefting Platelet-derived growth factor receptor regulates salivary gland morphogenesis via fibroblast growth factor expression Multiple Cranial Organ Defects after Conditionally Knocking Out Fgf10 in the Neural Crest ISL1 directly regulates FGF10 transcription during human cardiac outflow formation.Expression of ERK signaling inhibitors Dusp6, Dusp7, and Dusp9 during mouse ear development.Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.Salivary Gland Dysplasia in Fgf10 Heterozygous Mice: A New Mouse Model of Xerostomia.Identification of differentially expressed genes in early inner ear development Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome The Fibroblast Growth Factor signaling pathway Loss-of-function fibroblast growth factor receptor-2 mutations in melanoma Signaling by FGFR2b controls the regenerative capacity of adult mouse incisors.Fibroblast growth factors: from molecular evolution to roles in development, metabolism and disease.Redundant and dosage sensitive requirements for Fgf3 and Fgf10 in cardiovascular development Mechanisms involved in injury and repair of the murine lacrimal gland: role of programmed cell death and mesenchymal stem cells Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin Laminin alpha5 is necessary for submandibular gland epithelial morphogenesis and influences FGFR expression through beta1 integrin signaling.FGFR2 mutation in 46,XY sex reversal with craniosynostosis Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.A new mutation in TP63 is associated with age-related pathology.The FGF family: biology, pathophysiology and therapy Negative regulation of fibroblast growth factor 10 (FGF-10) by polyoma enhancer activator 3 (PEA3).Transient Inhibition of FGFR2b-ligands signaling leads to irreversible loss of cellular β-catenin organization and signaling in AER during mouse limb development Quantification of shape and cell polarity reveals a novel mechanism underlying malformations resulting from related FGF mutations during facial morphogenesis.Molecular pathology of the fibroblast growth factor family.Fibroblast growth factors and their receptors in cancer.Role of FGFs/FGFRs in skeletal development and bone regeneration.Fibroblast growth factor signaling in mammalian tooth development.Fibroblast growth factor (FGF) signaling in development and skeletal diseases.

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Mutations in different components of FGF signaling in LADD syndrome.

http://www.wikidata.org/entity/Q39746901

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2006年學術文章

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2006年學術文章

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2006年學術文章

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name

Mutations in different components of FGF signaling in LADD syndrome.

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Mutations in different components of FGF signaling in LADD syndrome.

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type

label

Mutations in different components of FGF signaling in LADD syndrome.

@en

Mutations in different components of FGF signaling in LADD syndrome.

@nl

prefLabel

Mutations in different components of FGF signaling in LADD syndrome.

@en

Mutations in different components of FGF signaling in LADD syndrome.

@nl

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Nature Genetics

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Mutations in different components of FGF signaling in LADD syndrome.

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Abdullah Uzumcu

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Angus Dobbie

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Bernd Wollnik

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Christian Becker

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Cor W R J Cremers

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Edyta Rohmann

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Erin D Lew

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Han G Brunner

http://www.w3.org/2001/XMLSchema#string

Hans van Bokhoven

http://www.w3.org/2001/XMLSchema#string

Jules G Leroy

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P2860

Cellular signaling by fibroblast growth factor receptors

Conditional knockdown of Fgfr2 in mice using Cre-LoxP induced RNA interference

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome

Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations

Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

Exclusive paternal origin of new mutations in Apert syndrome.

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

Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies.

Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias.

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10.1038/NG1757

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P433

4

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38

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Peter Nürnberg

Gudrun Nürnberg

Joseph Schlessinger

Veraragavan P. Eswarakumar

Hülya Kayserili

Christian Kubisch

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2006-02-26T00:00:00Z

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16501574

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