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21 results for author:"Friedman K." in Literature citations

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Critical von Willebrand factor A1 domain residues influence type VI collagen binding.

Flood V.H., Gill J.C., Christopherson P.A., Bellissimo D.B., Friedman K.D., Haberichter S.L., Lentz S.R., Montgomery R.R.

J. Thromb. Haemost. 10:1417-1424(2012) · Mapped (6)

Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Jacobi P.M., Gill J.C., Flood V.H., Jakab D.A., Friedman K.D., Haberichter S.L.

Blood 119:4543-4553(2012) · Mapped (6)

Molecular diagnostic dilemmas in Rett syndrome.

Zvereff V., Carpenter L., Patton D., Cabral H., Rita D., Wilson A., Anyane-Yeboa K., White L., Friedman K.J.

Brain Dev. 34:750-755(2012) · Mapped (15)

VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.

Bellissimo D.B., Christopherson P.A., Flood V.H., Gill J.C., Friedman K.D., Haberichter S.L., Shapiro A.D., Abshire T.C., Leissinger C., Hoots W.K. et al.

Blood 119:2135-2140(2012) · Mapped (6)

Stimulation of yeast telomerase activity by the ever shorter telomere 3 (Est3) subunit is dependent on direct interaction with the catalytic protein Est2.

Talley J.M., DeZwaan D.C., Maness L.D., Freeman B.C., Friedman K.L.

J. Biol. Chem. 286:26431-26439(2011) · Mapped (2)

Common VWF exon 28 polymorphisms in African Americans affecting the VWF activity assay by ristocetin cofactor.

Flood V.H., Gill J.C., Morateck P.A., Christopherson P.A., Friedman K.D., Haberichter S.L., Branchford B.R., Hoffmann R.G., Abshire T.C., Di Paola J.A. et al.

Blood 116:280-286(2010) · Mapped (6)

Genetic modifiers of liver disease in cystic fibrosis.

Bartlett J.R., Friedman K.J., Ling S.C., Pace R.G., Bell S.C., Bourke B., Castaldo G., Castellani C., Cipolli M., Colombo C. et al.

JAMA 302:1076-1083(2009) · Mapped (23)

Type 2B von Willebrand disease associated with the release of platelet agglutinates from megakaryocytes in the bone marrow.

Slayton W.B., Patel M., Sola-Visner M., Harris N., Rivers A., Montgomery R.R., Friedman K.D.

J. Pediatr. Hematol. Oncol. 30:708-711(2008) · Mapped (6)

Yeast Est2p affects telomere length by influencing association of Rap1p with telomeric chromatin.

Ji H., Adkins C.J., Cartwright B.R., Friedman K.L.

Mol. Cell. Biol. 28:2380-2390(2008) · Mapped (3)

Proteasome-dependent degradation of Est1p regulates the cell cycle-restricted assembly of telomerase in Saccharomyces cerevisiae.

Osterhage J.L., Talley J.M., Friedman K.L.

Nat. Struct. Mol. Biol. 13:720-728(2006) · Mapped (3)

Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis.

Kakela J.K., Friedman K.D., Haberichter S.L., Buchholz N.P., Christopherson P.A., Kroner P.A., Gill J.C., Montgomery R.R., Bellissimo D.B.

Mol. Genet. Metab. 87:262-271(2006) · Mapped (6)

Regulation of telomere length by an N-terminal region of the yeast telomerase reverse transcriptase.

Ji H., Platts M.H., Dharamsi L.M., Friedman K.L.

Mol. Cell. Biol. 25:9103-9114(2005) · Mapped (7)

The ISG15 isopeptidase UBP43 is regulated by proteolysis via the SCFSkp2 ubiquitin ligase.

Tokarz S., Berset C., La Rue J., Friedman K., Nakayama K., Nakayama K., Zhang D.E., Lanker S.

J. Biol. Chem. 279:46424-46430(2004) · UniProtKB (1) · Mapped (10)

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

Groman J.D., Hefferon T.W., Casals T., Bassas L., Estivill X., Des Georges M., Guittard C., Koudova M., Fallin M.D., Nemeth K. et al.

Am. J. Hum. Genet. 74:176-179(2004) · Mapped (45)

N-terminal domain of yeast telomerase reverse transcriptase: recruitment of Est3p to the telomerase complex.

Friedman K.L., Heit J.J., Long D.M., Cech T.R.

Mol. Biol. Cell 14:1-13(2003) · Mapped (3)

Lung disease associated with the IVS8 5T allele of the CFTR gene.

Noone P.G., Pue C.A., Zhou Z., Friedman K.J., Wakeling E.L., Ganeshananthan M., Simon R.H., Silverman L.M., Knowles M.R.

Am. J. Respir. Crit. Care Med. 162:1919-1924(2000) · Mapped (45)

Essential functions of amino-terminal domains in the yeast telomerase catalytic subunit revealed by selection for viable mutants.

Friedman K.L., Cech T.R.

Genes Dev. 13:2863-2874(1999) · Mapped (1)

CLB5-dependent activation of late replication origins in S. cerevisiae.

Donaldson A.D., Raghuraman M.K., Friedman K.L., Cross F.R., Brewer B.J., Fangman W.L.

Mol. Cell 2:173-182(1998) · Mapped (6)

Cystic fibrosis transmembrane-conductance regulator mutations among African Americans.

Friedman K.J., Leigh M.W., Czarnecki P., Feldman G.L.

Am. J. Hum. Genet. 62:195-196(1998) · UniProtKB (1)

A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.

Highsmith W.E., Burch L.H., Zhou Z., Olsen J.C., Boat T.E., Spock A., Gorvoy J.D., Quittel L., Friedman K.J., Silverman L.M.

N. Engl. J. Med. 331:974-980(1994) · Mapped (3)

An amino acid polymorphism within the RGD binding domain of platelet membrane glycoprotein IIIa is responsible for the formation of the Pena/Penb alloantigen system.

Wang R., Furihata K., McFarland J.G., Friedman K., Aster R.H., Newman P.J.

J. Clin. Invest. 90:2038-2043(1992) · UniProtKB (1)

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