|An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE-Bruch's membrane interface in aging and age-related macular degeneration|
GS Hageman, PJ Luthert, NHV Chong, LV Johnson, DH Anderson, ...
Progress in retinal and eye research 20 (6), 705-732, 2001
|A role for local inflammation in the formation of drusen in the aging eye|
DH Anderson, RF Mullins, GS Hageman, LV Johnson
American journal of ophthalmology 134 (3), 411-431, 2002
|Drusen associated with aging and age‐related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and …|
RF Mullins, SR Russell, DH Anderson, GS Hageman
The FASEB Journal 14 (7), 835-846, 2000
|Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin|
DY Nishimura, M Fath, RF Mullins, C Searby, M Andrews, R Davis, ...
Proceedings of the National Academy of Sciences 101 (47), 16588-16593, 2004
|T-cell immunoglobulin and mucin domain 1 (TIM-1) is a receptor for Zaire Ebolavirus and Lake Victoria Marburgvirus|
AS Kondratowicz, NJ Lennemann, PL Sinn, RA Davey, CL Hunt, ...
Proceedings of the National Academy of Sciences 108 (20), 8426-8431, 2011
|Bardet–Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly|
K Mykytyn, RF Mullins, M Andrews, AP Chiang, RE Swiderski, B Yang, ...
Proceedings of the National Academy of Sciences 101 (23), 8664-8669, 2004
|Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor|
N Jacobson, M Andrews, AR Shepard, D Nishimura, C Searby, JH Fingert, ...
Human molecular genetics 10 (2), 117-125, 2001
|Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F|
KN Alagramam, H Yuan, MH Kuehn, CL Murcia, S Wayne, ...
Human molecular genetics 10 (16), 1709-1718, 2001
|Choriocapillaris vascular dropout related to density of drusen in human eyes with early age-related macular degeneration|
RF Mullins, MN Johnson, EA Faidley, JM Skeie, J Huang
Investigative ophthalmology & visual science 52 (3), 1606-1612, 2011
|Retinal neurodegeneration may precede microvascular changes characteristic of diabetic retinopathy in diabetes mellitus|
EH Sohn, HW van Dijk, C Jiao, PHB Kok, W Jeong, N Demirkaya, ...
Proceedings of the National Academy of Sciences 113 (19), E2655-E2664, 2016
|Structure and composition of drusen associated with glomerulonephritis: implications for the role of complement activation in drusen biogenesis|
RF Mullins, N Aptsiauri, GS Hageman
Eye 15 (3), 390-395, 2001
|Local cellular sources of apolipoprotein E in the human retina and retinal pigmented epithelium: implications for the process of drusen formation|
DH Anderson, S Ozaki, M Nealon, J Neitz, RF Mullins, GS Hageman, ...
American journal of ophthalmology 131 (6), 767-781, 2001
|A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity|
RE Davis, RE Swiderski, K Rahmouni, DY Nishimura, RF Mullins, ...
Proceedings of the National Academy of Sciences 104 (49), 19422-19427, 2007
|Vitronectin is a constituent of ocular drusen and the vitronectin gene is expressed in human retinal pigmented epithelial cells|
GS Hageman, RF Mullins, SR Russell, LV Johnson, DH Anderson
The FASEB journal 13 (3), 477-484, 1999
|Decreased thickness and integrity of the macular elastic layer of Bruch's membrane correspond to the distribution of lesions associated with age-related macular degeneration|
NHV Chong, J Keonin, PJ Luthert, CI Frennesson, DM Weingeist, RL Wolf, ...
The American journal of pathology 166 (1), 241-251, 2005
|Bardet–Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function|
HJ Yen, MK Tayeh, RF Mullins, EM Stone, VC Sheffield, DC Slusarski
Human molecular genetics 15 (5), 667-677, 2006
|Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa|
BA Tucker, TE Scheetz, RF Mullins, AP DeLuca, JM Hoffmann, ...
Proceedings of the National Academy of Sciences 108 (34), E569-E576, 2011
|Identical mutation in a novel retinal gene causes progressive rod–cone degeneration in dogs and retinitis pigmentosa in humans|
B Zangerl, O Goldstein, AR Philp, SJP Lindauer, SE Pearce-Kelling, ...
Genomics 88 (5), 551-563, 2006
|Molecular composition of drusen as related to substructural phenotype|
GS Hageman, RF Mullins
Mol Vis 5 (28), 10562652, 1999
|Mkks-null mice have a phenotype resembling Bardet–Biedl syndrome|
MA Fath, RF Mullins, C Searby, DY Nishimura, J Wei, K Rahmouni, ...
Human molecular genetics 14 (9), 1109-1118, 2005