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Stem Cell Related Patent Number US6703198
| Title: | Methods of diagnosing alagille syndrome | | Inventors: | Li, Linheng; Seattle, WA, USA
Hood, Leroy; Seattle, WA, USA
Krantz, Ian D.; Philadelphia, PA, USA
Spinner, Nancy B.; Bala Cynwyd, PA, USA | | Summary: | This invention introduces a method of diagnosing Alagille Syndrome in an individual, via the detection of an Alagille Syndrome disease-associated mutation within a JAGGED1 gene, wherein detection of the Alagille Syndrome disease-associated mutation is diagnostic of Alagille Syndrome. Described herein are novel JAGGED peptides for inhibiting the differentiation of progenitor cells. The invention relates to an isolated polypeptide exhibiting substantially the same amino acid sequence as JAGGED, or an active fragment thereof, provided that the polypeptide does not have the amino acid sequence of SEQ ID NO:5 or SEQ ID NO:6. Further provided is an isolated nucleic acid molecule containing a nucleotide sequence encoding substantially the same amino acid sequence as JAGGED, or an active fragment thereof, according to the same criteria. Further disclosed are methods of inhibiting differentiation of hematopoietic progenitor cells by contacting the progenitor cells with an isolated JAGGED polypeptide, or active fragment thereof. Methods of diagnosing Alagille Syndrome in an individual are included, via the detection of an Alagille Syndrome disease-associated mutation linked to a JAGGED locus. Also provided are the means by which such cells may be maintained in an undifferentiated state, such as for hematopoietic reconstitution. | | Abstract: | | | US Patent Website: | Click Here for Full Text of Patent | | Title Number: | US6703198 | | Application Number: | US2000000566047 | | Date Filed: | 05/05/2000 | | Date Published: | 09/03/2004 | | Assignee: | The University of Washington, Seattle, WA, USA
The Children's Hospital of Philadelphia, Philadelphia, PA, USA |
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