Search Results - "Marmorstein, Lihua Y."

Role of Fibulin 3 in Aging‐Related Joint Changes and Osteoarthritis Pathogenesis in Human and Mouse Knee Cartilage by Hasegawa, Akihiko, Yonezawa, Tomo, Taniguchi, Noboru, Otabe, Koji, Akasaki, Yukio, Matsukawa, Tetsuya, Saito, Masahiko, Neo, Masashi, Marmorstein, Lihua Y., Lotz, Martin K.

“…Objective The EFEMP1 gene encoding fibulin 3 is specifically expressed in the superficial zone (SZ) of articular cartilage. The aims of this study were to…”
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Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy by Marmorstein, Alan D., Johnson, Adiv A., Bachman, Lori A., Andrews-Pfannkoch, Cynthia, Knudsen, Travis, Gilles, Benjamin J., Hill, Matthew, Gandhi, Jarel K., Marmorstein, Lihua Y., Pulido, Jose S.

“…Autosomal recessive bestrophinopathy (ARB) is caused by mutations in the gene BEST1 which encodes bestrophin 1 (Best1), an anion channel expressed in retinal…”
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Fibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidase by Horiguchi, Masahito, Inoue, Tadashi, Ohbayashi, Tetsuya, Hirai, Maretoshi, Noda, Kazuo, Marmorstein, Lihua Y, Yabe, Daisuke, Takagi, Kyoko, Akama, Tomoya O, Kita, Toru, Kimura, Takeshi, Nakamura, Tomoyuki

“…Great arteries, as well as lungs and skin, contain elastic fibers as important components to maintain their physiological functions. Although recent studies…”
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Mutant Fibulin-3 Causes Proteoglycan Accumulation and Impaired Diffusion Across Bruch's Membrane by Zayas-Santiago, Astrid, Cross, Samuel D, Stanton, James B, Marmorstein, Alan D, Marmorstein, Lihua Y

“…The mutation R345W in EFEMP1 (fibulin-3) causes macular degeneration. This study sought to determine whether proteoglycan content and diffusion across Bruch's…”
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Targeted Disruption of Fibulin-4 Abolishes Elastogenesis and Causes Perinatal Lethality in Mice by McLaughlin, Precious J., Chen, Qiuyun, Horiguchi, Masahito, Starcher, Barry C., Stanton, J. Brett, Broekelmann, Thomas J., Marmorstein, Alan D., McKay, Brian, Mecham, Robert, Nakamura, Tomoyuki, Marmorstein, Lihua Y.

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Bestrophin, the Product of the Best Vitelliform Macular Dystrophy Gene (VMD2), Localizes to the Basolateral Plasma Membrane of the Retinal Pigment Epithelium by Marmorstein, Alan D., Marmorstein, Lihua Y., Rayborn, Mary, Wang, Xinxing, Hollyfield, Joe G., Petrukhin, Konstantin

“…Best vitelliform macular dystrophy is a dominantly inherited, early onset, macular degenerative disease that exhibits some histopathologic similarities to…”
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Failure of Pelvic Organ Support in Mice Deficient In Fibulin-3 by Rahn, David D, Acevedo, Jesús F, Roshanravan, Shayzreen, Keller, Patrick W, Davis, Elaine C, Marmorstein, Lihua Y, Word, R. Ann

“…Fibulin-5 is crucial for normal elastic fiber synthesis in the vaginal wall; more than 90% of fibulin-5-knockout mice develop pelvic organ prolapse by 20 weeks…”
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The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1) by Marmorstein, Lihua Y, Wu, Jiang, McLaughlin, Precious, Yocom, John, Karl, Mike O, Neussert, Rudgar, Wimmers, Soenke, Stanton, J Brett, Gregg, Ronald G, Strauss, Olaf, Peachey, Neal S, Marmorstein, Alan D

“…Mutations in VMD2, encoding bestrophin (best-1), cause Best vitelliform macular dystrophy (BMD), adult-onset vitelliform macular dystrophy (AVMD), and…”
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Aberrant Accumulation of EFEMP1 Underlies Drusen Formation in Malattia Leventinese and Age-Related Macular Degeneration by Marmorstein, Lihua Y., Munier, Francis L., Arsenijevic, Yvan, Schorderet, Daniel F., McLaughlin, Precious J., Chung, Daniel, Traboulsi, Elias, Marmorstein, Alan D.

“…Malattia Leventinese (ML), an inherited macular degenerative disease, is closely reminiscent of age-related macular degeneration (AMD), the most common cause…”
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The BRCA2 Gene Product Functionally Interacts with p53 and RAD51 by Marmorstein, Lihua Y., Ouchi, Toru, Aaronson, Stuart A.

“…Germ-line mutations in the human BRCA2 gene confer susceptibility to breast cancer. Efforts to elucidate its function have revealed a putative transcriptional…”
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Bestrophin 1 and retinal disease by Johnson, Adiv A., Guziewicz, Karina E., Lee, C. Justin, Kalathur, Ravi C., Pulido, Jose S., Marmorstein, Lihua Y., Marmorstein, Alan D.

“…Mutations in the gene BEST1 are causally associated with as many as five clinically distinct retinal degenerative diseases, which are collectively referred to…”
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Focus on molecules: Fibulin-3 (EFEMP1) by Zhang, Youwen, Marmorstein, Lihua Y.

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Deletion of Efemp1 Is Protective Against the Development of Sub-RPE Deposits in Mouse Eyes by Stanton, James B, Marmorstein, Alan D, Zhang, Youwen, Marmorstein, Lihua Y

“…EFEMP1 (fibulin-3) is mutated in Malattia Leventinese/Doyne's honeycomb retinal dystrophy (ML/DHRD), an inherited macular dystrophy similar to AMD. Both…”
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Early AMD-like defects in the RPE and retinal degeneration in aged mice with RPE-specific deletion of Atg5 or Atg7 by Zhang, Youwen, Cross, Samuel D, Stanton, James B, Marmorstein, Alan D, Le, Yun Zheng, Marmorstein, Lihua Y

“…To examine the effects of autophagy deficiency induced by RPE-specific deletion of or in mice as a function of age. Conditional knockout mice with a floxed…”
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Fibulin-4 Deficiency Results in Ascending Aortic Aneurysms: A Potential Link Between Abnormal Smooth Muscle Cell Phenotype and Aneurysm Progression by Huang, Jianbin, Davis, Elaine C, Chapman, Shelby L, Budatha, Madhusudhan, Marmorstein, Lihua Y, Word, R Ann, Yanagisawa, Hiromi

“…RATIONALE:Loss of fibulin-4 during embryogenesis results in perinatal lethality because of aneurysm rupture, and defective elastic fiber assembly has been…”
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Bestrophin Interacts Physically and Functionally with Protein Phosphatase 2A by Marmorstein, Lihua Y, McLaughlin, Precious J, Stanton, J Brett, Yan, Lin, Crabb, John W, Marmorstein, Alan D

“…Bestrophin is a 68-kDa basolateral plasma membrane protein expressed in retinal pigment epithelial cells (RPE). It is encoded by the VMD2 gene, which is…”
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Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation by Johnson, Adiv A, Bachman, Lori A, Gilles, Benjamin J, Cross, Samuel D, Stelzig, Kimberly E, Resch, Zachary T, Marmorstein, Lihua Y, Pulido, Jose S, Marmorstein, Alan D

“…Mutations in BEST1, encoding bestrophin-1 (Best1), cause autosomal recessive bestrophinopathy (ARB). Encoding bestrophin-1 is a pentameric anion channel…”
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Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in mice by McLaughlin, Precious J., Bakall, Benjamin, Choi, Jiwon, Liu, Zhonglin, Sasaki, Takako, Davis, Elaine C., Marmorstein, Alan D., Marmorstein, Lihua Y.

“…A mutation in the EFEMP1 gene causes Malattia Leventinese, an inherited macular degenerative disease with strong similarities to age-related macular…”
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Bestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium by Marmorstein, Alan D, Kinnick, Tyson R, Stanton, J Brett, Johnson, Adiv A, Lynch, Ronald M, Marmorstein, Lihua Y

“…Mutations in BEST1, encoding Bestrophin-1 (Best1), cause Best vitelliform macular dystrophy (BVMD) and other inherited retinal degenerative diseases. Best1 is…”
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Soluble adenylyl cyclase in the eye by Lee, Yong S., Marmorstein, Lihua Y., Marmorstein, Alan D.

“…Adenylyl cyclases (ACs) are a family of enzymes which convert ATP to cAMP, an essential intermediate in many signal transduction pathways. Of the 10 AC genes…”
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