PMC Links for Protein (Select 22027522) - PMC

Select item 48268871.

A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration

Matthew Carrigan, Emma Duignan, Pete Humphries, Arpad Palfi, Paul F Kenna, G Jane Farrar

Br J Ophthalmol. 2016 Apr; 100(4): 495–500. Published online 2015 Oct 15. doi: 10.1136/bjophthalmol-2015-306939

PMCID:: PMC4826887

Select item 33399092.

GNAT1 Associated with Autosomal Recessive Congenital Stationary Night Blindness

Muhammad Asif Naeem, Venkata R. M. Chavali, Shahbaz Ali, Muhammad Iqbal, Saima Riazuddin, Shaheen N. Khan, Tayyab Husnain, Paul A. Sieving, Radha Ayyagari, Sheikh Riazuddin, J. Fielding Hejtmancik, S. Amer Riazuddin

Invest Ophthalmol Vis Sci. 2012 Mar; 53(3): 1353–1361. Published online 2012 Mar 13. doi: 10.1167/iovs.11-8026

PMCID:: PMC3339909

Abstract Article PDF–2.5M

Select item 3369343.

Characterization of the human rod transducin alpha-subunit gene.

S L Fong

Nucleic Acids Res. 1992 Jun 11; 20(11): 2865–2870. doi: 10.1093/nar/20.11.2865

PMCID:: PMC336934

Summary Page Browse PDF–1.3M

Select item 3180514.

Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye.

C Van Dop, D C Medynski, L M Apone

Nucleic Acids Res. 1989 Jun 26; 17(12): 4887. doi: 10.1093/nar/17.12.4887

PMCID:: PMC318051

Summary Page Browse PDF–133K

Select item 59375755.

A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness

Christina Zeitz, Cécile Méjécase, Mathilde Stévenard, Christelle Michiels, Isabelle Audo, Michael F. Marmor

Biomed Res Int. 2018; 2018: 7694801. Published online 2018 Apr 23. doi: 10.1155/2018/7694801

PMCID:: PMC5937575

Abstract Article PDF–3.1M

Select item 51580316.

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

Cécile Méjécase, Caroline Laurent-Coriat, Claudine Mayer, Olivier Poch, Saddek Mohand-Saïd, Camille Prévot, Aline Antonio, Fiona Boyard, Christel Condroyer, Christelle Michiels, Steven Blanchard, Mélanie Letexier, Jean-Paul Saraiva, José-Alain Sahel, Isabelle Audo, Christina Zeitz

PLoS One. 2016; 11(12): e0168271. Published online 2016 Dec 15. doi: 10.1371/journal.pone.0168271

PMCID:: PMC5158031

Abstract Article PDF–1.7M

Select item 35167207.

Regulator of G-protein Signaling-21 (RGS21) Is an Inhibitor of Bitter Gustatory Signaling Found in Lingual and Airway Epithelia

Staci P. Cohen, Brian K. Buckley, Mickey Kosloff, Alaina L. Garland, Dustin E. Bosch, Gang Cheng, Jr, Harish Radhakrishna, Michael D. Brown, Francis S. Willard, Vadim Y. Arshavsky, Robert Tarran, David P. Siderovski, Adam J. Kimple

J Biol Chem. 2012 Dec 7; 287(50): 41706–41719. Published online 2012 Oct 24. doi: 10.1074/jbc.M112.423806

PMCID:: PMC3516720

Abstract Article PDF–4.5M

Select item 26429158.

Proteomic and phototoxic characterization of melanolipofuscin: Correlation to disease and model for its origin

Sarah Warburton, Wayne E. Davis, Katie Southwick, Huijun Xin, Adam T. Woolley, Gregory F. Burton, Craig D. Thulin

Mol Vis. 2007; 13: 318–329. Published online 2007 Mar 1.

PMCID:: PMC2642915

Abstract Article PDF–555K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 8

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity