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Trichorhinophalangeal dysplasia type I

Known as: TRICHORHINOPHALANGEAL SYNDROME, TYPE I, TRPS1, Trichorhinophalangeal (TRP) syndrome 1 
A rare autosomal dominant syndrome caused by mutations in the TRPS1 gene. It is characterized by distinctive facial appearance (sparse hair, pear… Expand
National Institutes of Health

Papers overview

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Review
2012
Review
2012
The thermo-transient receptor potentials (TRPs), a recently discovered family of ion channels activated by temperature, are… Expand
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Highly Cited
2011
Highly Cited
2011
The microRNAs miR-221 and miR-222 promote a phenotype associated with metastasis and are found in a clinically aggressive form of… Expand
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Highly Cited
2011
Highly Cited
2011
MicroRNAs miR-221 and miR-222 are associated with a clinically aggressive form of breast cancer and promote epithelial-to… Expand
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2010
2010
Background Mutations of the SET binding protein 1 gene (SETBP1) on 18q12.3 have recently been reported to cause Schinzel–Giedion… Expand
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2009
2009
Trps1, the gene mutated in human Tricho-Rhino-Phalangeal syndrome, represents an atypical member of the GATA-family of… Expand
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2005
2005
Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal malformation syndrome with high penetrance and variable… Expand
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2004
2004
The long arm of chromosome 8 is one of the most common regions of amplification in cancers of several organs, especially… Expand
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2002
2002
The Trps1 gene codes for an atypical member of the GATA type family of transcription factors. Mutations in human TRPS1 lead to… Expand
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Highly Cited
2001
Highly Cited
2001
Known vertebrate GATA proteins contain two zinc fingers and are required in development, whereas invertebrates express a class of… Expand
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Highly Cited
2000
Highly Cited
2000
Tricho-rhino-phalangeal syndrome type I (TRPS I, MIM 190350) is a malformation syndrome characterized by craniofacial and… Expand
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