Kwiatkowski DJ - Search Results

1

Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex.

Goto J, Talos DM, Klein P, Qin W, Chekaluk YI, Anderl S, Malinowska IA, Di Nardo A, Bronson RT, Chan JA, Vinters HV, Kernie SG, Jensen FE, Sahin M, Kwiatkowski DJ. Goto J, et al. Among authors: kwiatkowski dj. Proc Natl Acad Sci U S A. 2011 Nov 8;108(45):E1070-9. doi: 10.1073/pnas.1106454108. Epub 2011 Oct 24. Proc Natl Acad Sci U S A. 2011. PMID: 22025691 Free PMC article.

2

Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas.

Henske EP, Neumann HP, Scheithauer BW, Herbst EW, Short MP, Kwiatkowski DJ. Henske EP, et al. Among authors: kwiatkowski dj. Genes Chromosomes Cancer. 1995 Aug;13(4):295-8. doi: 10.1002/gcc.2870130411. Genes Chromosomes Cancer. 1995. PMID: 7547639

3

Clinical, neuropathological and genetic aspects of the tuberous sclerosis complex.

Short MP, Richardson EP Jr, Haines JL, Kwiatkowski DJ. Short MP, et al. Among authors: kwiatkowski dj. Brain Pathol. 1995 Apr;5(2):173-9. doi: 10.1111/j.1750-3639.1995.tb00591.x. Brain Pathol. 1995. PMID: 7670658 Review.

4

Tuberous sclerosis.

Kwiatkowski DJ, Short MP. Kwiatkowski DJ, et al. Arch Dermatol. 1994 Mar;130(3):348-54. Arch Dermatol. 1994. PMID: 8129414 Review.

5

Cloning and evaluation of RALGDS as a candidate for the tuberous sclerosis gene TSC1.

Humphrey D, Kwiatkowska J, Henske EP, Haines JL, Halley D, van Slegtenhorst M, Kwiatkowski DJ. Humphrey D, et al. Among authors: kwiatkowski dj. Ann Hum Genet. 1997 Jul;61(Pt 4):299-305. doi: 10.1046/j.1469-1809.1997.6140299.x. Ann Hum Genet. 1997. PMID: 9365783

6

Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis.

Kwiatkowska J, Wigowska-Sowinska J, Napierala D, Slomski R, Kwiatkowski DJ. Kwiatkowska J, et al. Among authors: kwiatkowski dj. N Engl J Med. 1999 Mar 4;340(9):703-7. doi: 10.1056/NEJM199903043400905. N Engl J Med. 1999. PMID: 10053179 Free article. No abstract available.

7

Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.

Dabora SL, Sigalas I, Hall F, Eng C, Vijg J, Kwiatkowski DJ. Dabora SL, et al. Among authors: kwiatkowski dj. Ann Hum Genet. 1998 Nov;62(Pt 6):491-504. doi: 10.1046/j.1469-1809.1998.6260491.x. Ann Hum Genet. 1998. PMID: 10363127

8

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ. Dabora SL, et al. Among authors: kwiatkowski dj. Am J Hum Genet. 2001 Jan;68(1):64-80. doi: 10.1086/316951. Epub 2000 Dec 8. Am J Hum Genet. 2001. PMID: 11112665 Free PMC article.

9

Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene.

Roberts PS, Jozwiak S, Kwiatkowski DJ, Dabora SL. Roberts PS, et al. Among authors: kwiatkowski dj. J Biochem Biophys Methods. 2001 Jan 30;47(1-2):33-7. doi: 10.1016/s0165-022x(00)00149-4. J Biochem Biophys Methods. 2001. PMID: 11179759

10

Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.

Tee AR, Fingar DC, Manning BD, Kwiatkowski DJ, Cantley LC, Blenis J. Tee AR, et al. Among authors: kwiatkowski dj. Proc Natl Acad Sci U S A. 2002 Oct 15;99(21):13571-6. doi: 10.1073/pnas.202476899. Epub 2002 Sep 23. Proc Natl Acad Sci U S A. 2002. PMID: 12271141 Free PMC article.

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