Search Results - "Dreyer, Sandra D."
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Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
Published in Nature genetics (01-05-1998)“…The LIM-homeodomain protein Lmx1b plays a central role in dorso-ventral patterning of the vertebrate limb. Targeted disruption of Lmx1b results in skeletal…”
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Lmx1b expression during joint and tendon formation: localization and evaluation of potential downstream targets
Published in Gene Expression Patterns (01-07-2004)“…The tetrapod limb exhibits distinct dorsoventral joint, tendon, and muscle asymmetry. The LIM-homeodomain transcription factor, Lmx1b, is required to achieve…”
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Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome
Published in Nature genetics (01-02-2001)“…Basement membrane (BM) morphogenesis is critical for normal kidney function. Heterotrimeric type IV collagen, composed of different combinations of six…”
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Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients
Published in American journal of human genetics (01-12-1998)“…Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS…”
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LMX1B transactivation and expression in nail-patella syndrome
Published in Human molecular genetics (12-04-2000)“…Lmx1b, a member of the LIM homeodomain protein family, is essential for the specification of dorsal limb fates at the zeugopodal and autopodal level in…”
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Cloning, characterization, and chromosomal assignment of the human ortholog of murine Zfp-37, a candidate gene for Nager syndrome
Published in Mammalian genome (01-06-1998)“…In an effort to identify putative transcription factors involved in chondrocyte differentiation during human endochondral bone formation, a human fetal…”
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The long and the short of it: developmental genetics of the skeletal dysplasias
Published in Clinical genetics (01-04-1999)“…The skeletal dysplasias are a large heterogeneous group of genetic conditions characterized by abnormal shape, growth, or integrity of bones. Often, there may…”
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The long and the short of it: developmental genetics of the skeletal dysplasias
Published in Clinical genetics (01-12-1998)“…The skeletal dysplasias are a large heterogeneous group of genetic conditions characterized by abnormal shape, growth, or integrity of bones. Often, there may…”
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The Centromeric/Nucleolar Chromatin Protein ZFP-37 May Function to Specify Neuronal Nuclear Domains
Published in The Journal of biological chemistry (10-04-1998)“…Murine ZFP-37 is a member of the large family of C2H2 type zinc finger proteins. It is characterized by a truncated NH2-terminal Krüppel-associated box and is…”
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The long and the short of it: developmental genetics of the skeletal dysplasias: Section Editor: Roderick R McInnes e‐mail: mcinnes@sickkids.on.ca
Published in Clinical genetics (01-04-1999)“…The skeletal dysplasias are a large heterogeneous group of genetic conditions characterized by abnormal shape, growth, or integrity of bones. Often, there may…”
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Isolation, Characterization, and Mapping of a Zinc Finger Gene, ZFP95, Containing Both a SCAN Box and an Alternatively Spliced KRAB A Domain
Published in Genomics (San Diego, Calif.) (15-11-1999)“…A new zinc finger gene of the Krüppel family was identified by screening a human fetal cartilage cDNA library with degenerate oligonucleotides. Sequence…”
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