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Lisa Kratz

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Anna Sukhanova; Louis M Weiner; Dong-Hua Yang; Hui Zheng; Yan Zhou; Gregory P Adams; Tetyana Bagnyukova; Barbara Burtness; Kathy Q Cai; David Cunningham; Brian L Egleston; Linara Gabitova; Erica A Golemis; Andrey Gorin; Gail E Herman; Richard I Kelley; Andres Klein-Szanto; Lisa Kratz; Hanqing Liu; Ranee Mehra; Anna Nikonova; Diana Restifo; Ilya G Serebriiskii; Igor Astsaturov
Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.
Gail E Herman; Lisa Kratz
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.
Paul J Clark; Richard I Kelley; Lisa Kratz; John G McHutchison; David M Millington; Andrew J Muir; G. SUBRAMANIAN; Alexander J Thompson; Adviye A Tolun; David M Vock; Keyur Patel
Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner.

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All Publications

2013: Anna Sukhanova; Louis M Weiner; Dong-Hua Yang; Hui Zheng; Yan Zhou; Gregory P Adams; Tetyana Bagnyukova; Barbara Burtness; Kathy Q Cai; David Cunningham; Brian L Egleston; Linara Gabitova; Erica A Golemis; Andrey Gorin; Gail E Herman; Richard I Kelley; Andres Klein-Szanto; Lisa Kratz; Hanqing Liu; Ranee Mehra; Anna Nikonova; Diana Restifo; Ilya G Serebriiskii; Igor Astsaturov
Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.
Cancer discovery 2013;3(1):96-111.
2012: Gail E Herman; Lisa Kratz
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics 2012;160C(4):301-21.
2012: Paul J Clark; Richard I Kelley; Lisa Kratz; John G McHutchison; David M Millington; Andrew J Muir; G. SUBRAMANIAN; Alexander J Thompson; Adviye A Tolun; David M Vock; Keyur Patel
Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner.
Hepatology (Baltimore, Md.) 2012;56(1):49-56.
2012: Yana Sandlers; Walter Hubbard; Richard O Jones; Lisa Kratz; Ann B Moser; Gerald V Raymond
Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy.
Molecular genetics and metabolism 2012;105(3):416-20.
2011: Rolf W Stottmann; Pamela Tran; Annick Turbe-Doan; Richard I Kelley; Lisa Kratz; Jennifer L Moran; David R Beier
Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.
PLoS genetics 2011;7(9):e1002224.
2011: Christian P Schaaf; Oleg A Shchelochkov; Hans R Waterham; Panagiotis Katsonis; Richard I Kelley; Janet Koster; Lisa Kratz; Olivier Lichtarge; Fernando Scaglia; Marwan Shinawi
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
American journal of medical genetics. Part A 2011;155A(7):1597-604.
2011: Miao He; Lisa Kratz; Joshua J Michel; Abbe N Vallejo; Laura Ferris; Richard I Kelley; Jacqueline J Hoover; Drazen Jukic; K Michael Gibson; Lynne A Wolfe; Dhanya Ramachandran; Zwick Michael; Jerry Vockley
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.
The Journal of clinical investigation 2011;121(3):976-84.
2010: Keith W McLarren; Tesa M Severson; Christèle du Souich; David Wayne Stockton; Lisa Kratz; David Cunningham; Glenda Hendson; Ryan D Morin; Diane Wu; Jessica E Paul; Jianghong An; Tanya N Nelson; Athena Chou; Andrea DeBarber; Louise S Merkens; Jacques L Michaud; Paula J Waters; Jingyi Yin; Barbara McGillivray; Michelle Demos; Guy A Rouleau; Karl-Heinz Grzeschik; Raffaella Smith; Patrick S Tarpey; Debbie Shears; Charles E Schwartz; Jozef Gecz; Michael R Stratton; Laura Arbour; Jane Hurlburt; Margot I Van Allen; Gail E Herman; Yongjun Zhao; Richard Moore; Richard I Kelley; Steven J M Jones; Robert D Steiner; F Lucy Raymond; Marco A Marra; Cornelius F Boerkoel
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
American journal of human genetics 2010;87(6):905-14.
2010: Wuhong Pei; Lisa Kratz; Isa Bernardini; Raman Sood; Tohei Yokogawa; Heidi Dorward; Carla Ciccone; Richard I Kelley; Yair Anikster; Harold A Burgess; Marjan Huizing; Benjamin Feldman
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.
Development (Cambridge, England) 2010;137(15):2587-96.
2010: Dau-Ming Niu; Kah-Wai Chong; Ju-Hui Hsu; Tina Jui-Ting Wu; Hsiao-Chi Yu; Cheng-Hung Huang; Ming-Yu Lo; Ching-Fai Kwok; Lisa Kratz; low-tone ho
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children.
Journal of inherited metabolic disease 2010;33(4):437-43.
2007: Cedric H L Shackleton; Josep Marcos del Aguila; Glenn E Palomaki; Wendy Y Craig; Richard I Kelley; Lisa Kratz; James E Haddow
Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS).
American journal of medical genetics. Part A 2007;143A(18):2129-36.
2006: Elaine Tierney; Irena Bukelis; Richard E Thompson; Khalid Ahmed; ALKA ANEJA; Lisa Kratz; Richard I Kelley
Abnormalities of cholesterol metabolism in autism spectrum disorders.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2006;141B(6):666-8.
2006: Wendy Y Craig; James E Haddow; Glenn E Palomaki; Richard I Kelley; Lisa Kratz; Cedric H L Shackleton; Josep Marcos del Aguila; G Stephen Tint; Andrew R MacRae; Malgorzata J M Nowaczyk; Edward M Kloza; Mira Irons; Marie Roberson
Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.
Prenatal diagnosis 2006;26(9):842-9.
2006: Jason A Williams; Christopher J Barreiro; Lois U Nwakanma; Mary S Lange; Lisa Kratz; Mary E Blue; Jennifer Berrong; Nishant D Patel; Vincent L Gott; Juan C Troncoso; Michael V Johnston; WM BAUMGARTNER
Valproic acid prevents brain injury in a canine model of hypothermic circulatory arrest: a promising new approach to neuroprotection during cardiac surgery.
The Annals of thoracic surgery 2006;81(6):2235-41; discussion 2241-2.
2006: Christopher J Barreiro; Jason A Williams; Torin P Fitton; Mary S Lange; Mary E Blue; Lisa Kratz; Peter B Barker; Mahaveer Degaonkar; Vincent L Gott; Juan C Troncoso; Michael V Johnston; WM BAUMGARTNER
Noninvasive assessment of brain injury in a canine model of hypothermic circulatory arrest using magnetic resonance spectroscopy.
The Annals of thoracic surgery 2006;81(5):1593-8.
2006: Lina S Correa-Cerro; Christopher A Wassif; Lisa Kratz; Georgina F Miller; Jeeva P Munasinghe; Alexander Grinberg; Steven J Fliesler; Forbes D Porter
Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.
Human molecular genetics 2006;15(6):839-51.
2003: Sakkubai Naidu; Genila Bibat; Lisa Kratz; Richard I Kelley; Jonathan Pevsner; Eric Hoffman; C Cuffari; Charles Rohde; Mary E Blue; Michael V Johnston
Clinical variability in Rett syndrome.
Journal of child neurology 2003;18(10):662-8.
2003: Patrycja A Krakowiak; Christopher A Wassif; Lisa Kratz; Diana Cozma; Martina Kovárová; Ginny Harris; Alexander Grinberg; Yinzi Yang; Alasdair G W Hunter; Maria Tsokos; Richard I Kelley; Forbes D Porter
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.
Human molecular genetics 2003;12(13):1631-41.
2003: Peter O Kwiterovich; Shirley C Chen; Donna G Virgil; Amy Schweitzer; Dagmar R Arnold; Lisa Kratz
Response of obligate heterozygotes for phytosterolemia to a low-fat diet and to a plant sterol ester dietary challenge.
Journal of lipid research 2003;44(6):1143-55.
2002: Hans Andersson; Lisa Kratz; Richard I Kelley
Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay.
American journal of medical genetics 2002;113(4):315-9.
2002: Richard I Kelley; Lisa Kratz; Rivka L Glaser; Michael L Netzloff; Linda Miller Wolf; Ethylin Jabs
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.
American journal of medical genetics 2002;110(2):95-102.
2001: Christopher A Wassif; P Zhu; Lisa Kratz; Patrycja A Krakowiak; Kevin P Battaile; Forrest F Weight; Alexander Grinberg; Robert D Steiner; Ngozi A Nwokoro; Richard I Kelley; Randall R Stewart; Forbes D Porter
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.
Human molecular genetics 2001;10(6):555-64.
2001: Cedric H L Shackleton; Esther Roitman; Lisa Kratz; Richard I Kelley
Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome.
Prenatal diagnosis 2001;21(3):207-12.
2001: Satoko Kumada; M Hayashi; J Kenmochi; S Kurosawa; N Shimozawa; Lisa Kratz; Richard I Kelley; K Taki; M Okaniwa
Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis.
American journal of medical genetics 2001;98(3):250-5.
2000: Malgorzata J M Nowaczyk; Tim Heshka; Lisa Kratz; R E Kelley
Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome.
American journal of medical genetics 2000;95(4):396-8.
2000: DK Grange; Lisa Kratz; Nancy Braverman; Richard I Kelley
CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase.
American journal of medical genetics 2000;90(4):328-35.
1999: Cedric H L Shackleton; Esther Roitman; Lisa Kratz; Richard I Kelley
Midgestational maternal urine steroid markers of fetal Smith-Lemli-Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency).
Steroids 1999;64(7):446-52.
1999: Nancy Braverman; Paul Lin; Fabian F Moebius; Cassandra Obie; Ann B Moser; Hartmut Glossmann; W R Wilcox; D L Rimoin; M Smith; Lisa Kratz; Richard I Kelley; David Valle
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.
Nature genetics 1999;22(3):291-4.
1999: Richard I Kelley; W G Wilcox; M Smith; Lisa Kratz; Ann B Moser; D S Rimoin
Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.
American journal of medical genetics 1999;83(3):213-9.
1999: Cedric H L Shackleton; Esther Roitman; Lisa Kratz; Richard I Kelley
Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus.
The Journal of clinical endocrinology and metabolism 1999;84(3):1157-9.
1999: Lisa Kratz; Richard I Kelley
Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.
American journal of medical genetics 1999;82(5):376-81.
1997: Christopher Cunniff; Lisa Kratz; Ann B Moser; M R Natowicz; Richard I Kelley
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.
American journal of medical genetics 1997;68(3):263-9.
1995: Stephen I Goodman; Lisa Kratz; K A DiGiulio; B J Biery; K E Goodman; G Isaya; Frank E Frerman
Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.
Human molecular genetics 1995;4(9):1493-8.
1995: Richard I Kelley; Lisa Kratz
3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome.
Pediatric research 1995;37(5):671-4.
1993: R G Boles; L R Ment; M Stephen Meyn; Arthur L Horwich; Lisa Kratz; Piero Rinaldo
Short-term response to dietary therapy in molybdenum cofactor deficiency.
Annals of neurology 1993;34(5):742-4.
1992: Stephen I Goodman; Lisa Kratz; Frank E Frerman
Pork and human cDNAs encoding glutaryl-CoA dehydrogenase.
Progress in clinical and biological research 1992;375():169-73.
1990: Lisa Kratz; Joann Boughman; T Pincus; D I Cohen; B W Needleman
Association of scleroderma with a T cell antigen receptor gamma gene restriction fragment length polymorphism.
Arthritis and rheumatism 1990;33(4):569-73.
1989: Lisa Kratz; Joann Boughman; B W Needleman
Lack of association between scleroderma and types I and III procollagen gene restriction fragment length polymorphisms.
Arthritis and rheumatism 1989;32(12):1597-600.
1989: Lisa Kratz; Joann Boughman; B W Needleman
Lack of an association between diffuse systemic sclerosis and HLA-DR1 or HLA-DR5.
Disease markers 1989;7(4):209-13.
1987: S S Singer; W Lijinsky; Lisa Kratz; N Castagnoli; J E Rose
A comparison of in vivo and in vitro metabolites of the H1-antagonist N,N-dimethyl-N'-2-pyridyl-N'-(2-thienylmethyl)-1,2-ethanediamine (methapyrilene) in the rat.
Xenobiotica; the fate of foreign compounds in biological systems 1987;17(11):1279-91.