Mutations in the human TBX4 gene cause small patella syndrome.
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TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndromeMild Campomelic Dysplasia: Report on a Case and ReviewThe T-box gene family: emerging roles in development, stem cells and cancerConnexin 40, a target of transcription factor Tbx5, patterns wrist, digits, and sternum.Increased DNA Methylation and Reduced Expression of Transcription Factors in Human Osteoarthritis Cartilage.Spatial discontinuity of optomotor-blind expression in the Drosophila wing imaginal disc disrupts epithelial architecture and promotes cell sorting.Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.Investigating the role of tbx4 in the female germline in mice.A divergent Tbx6-related gene and Tbx6 are both required for neural crest and intermediate mesoderm development in XenopusFamilial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.Tbx4 and tbx5 acting in connective tissue are required for limb muscle and tendon patterningIdentity and fate of Tbx4-expressing cells reveal developmental cell fate decisions in the allantois, limb, and external genitaliaTBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertensionTbx4 interacts with the short stature homeobox gene Shox2 in limb development.A combination of activation and repression by a colinear Hox code controls forelimb-restricted expression of Tbx5 and reveals Hox protein specificity.Optomotor-blind in the development of the Drosophila HS and VS lobula plate tangential cells.De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.Dynamic expression of Tbx2 subfamily genes in development of the mouse reproductive system.Magnetic Resonance Imaging Findings in Small Patella Syndrome.Genetic basis of hindlimb loss in a naturally occurring vertebrate model.VACTERL Association Etiology: The Impact of de novo and Rare Copy Number VariationsAsymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutationSegmental duplications mediate novel, clinically relevant chromosome rearrangements.omb and circumstance.T-box family of transcription factor-TBX5, insights in development and disease.Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.Molecular mechanisms by which T-bet regulates T-helper cell commitment.Regulation of limb bud initiation and limb-type morphology.Genetic study on developmental dysplasia of the hip.Regulation of organogenesis and stem cell properties by T-box transcription factors.The role of genetics in pulmonary arterial hypertension.Jmjd3 and UTX play a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expressionPhysical interaction between TBX5 and MEF2C is required for early heart development.Function of the C. elegans T-box factor TBX-2 depends on SUMOylation.Function of the C. elegans T-box factor TBX-2 depends on interaction with the UNC-37/Groucho corepressor.Divergent transcriptional activities determine limb identity.The 2017 ABJS Nicolas Andry Award: Advancing Personalized Medicine for Clubfoot Through Translational Research.Regulation of mesenchymal signaling in palatal mucosa differentiation.Small patella syndrome: New clinical and molecular insights into a consistent phenotype.A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.
P2860
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P2860
Mutations in the human TBX4 gene cause small patella syndrome.
description
2004 nî lūn-bûn
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2004 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2004 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Mutations in the human TBX4 gene cause small patella syndrome
@nl
Mutations in the human TBX4 gene cause small patella syndrome.
@ast
Mutations in the human TBX4 gene cause small patella syndrome.
@en
Mutations in the human TBX4 gene cause small patella syndrome.
@en-gb
type
label
Mutations in the human TBX4 gene cause small patella syndrome
@nl
Mutations in the human TBX4 gene cause small patella syndrome.
@ast
Mutations in the human TBX4 gene cause small patella syndrome.
@en
Mutations in the human TBX4 gene cause small patella syndrome.
@en-gb
prefLabel
Mutations in the human TBX4 gene cause small patella syndrome
@nl
Mutations in the human TBX4 gene cause small patella syndrome.
@ast
Mutations in the human TBX4 gene cause small patella syndrome.
@en
Mutations in the human TBX4 gene cause small patella syndrome.
@en-gb
P2093
P2860
P356
P1476
Mutations in the human TBX4 gene cause small patella syndrome.
@en
P2093
Albert Van Kampen
Andreas Burckhardt
Ben C J Hamel
Ernie M H F Bongers
Frantisek Losan
Helger G Yntema
Jeroen Schoots
Lies H Hoefsloot
Nine V A M Knoers
Pascal H G Duijf
P2860
P304
P356
10.1086/421331
P407
P577
2004-04-21T00:00:00Z