Gayle B Collin

Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye & Ear Infirmary, Harvard Medical School, Boston, Massachusetts. Electronic address:

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July 2016

Pituitary morphovolumetric changes in Alström syndrome.

Authors:

Valentina Citton Pietro Maffei Jan D Marshall Alessandro Baglione Gayle B Collin Gabriella Milan Roberto Vettor Jürgen K Naggert Renzo Manara

J Neuroradiol 2016 Jun 17;43(3):195-9. Epub 2015 Dec 17.

Department of Neurosciences,Neuroradiology Unit, University of Salerno, Salerno, Italy.

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June 2016

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.

Nat Genet 2016 Feb 21;48(2):144-51. Epub 2015 Dec 21.

Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.

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February 2016

Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.

Authors:

Gayle B Collin Dirk Hubmacher Jeremy R Charette Wanda L Hicks Lisa Stone Minzhong Yu Jürgen K Naggert Mark P Krebs Neal S Peachey Suneel S Apte Patsy M Nishina

Hum Mol Genet 2015 Dec 24;24(24):6958-74. Epub 2015 Sep 24.

The Jackson Laboratory, Bar Harbor, ME, USA,

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December 2015

A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia.

Authors:

Dennis M Maddox Gayle B Collin Akihiro Ikeda C Herbert Pratt Sakae Ikeda Britt A Johnson Ron E Hurd Lindsay S Shopland Jürgen K Naggert Bo Chang Mark P Krebs Patsy M Nishina

Invest Ophthalmol Vis Sci 2015 Jun;56(6):3776-87

The Jackson Laboratory Bar Harbor, Maine, United States.

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June 2015

Alström Syndrome: Mutation Spectrum of ALMS1.

Authors:

Jan D Marshall Jean Muller Gayle B Collin Gabriella Milan Stephen F Kingsmore Darrell Dinwiddie Emily G Farrow Neil A Miller Francesca Favaretto Pietro Maffei Hélène Dollfus Roberto Vettor Jürgen K Naggert

Hum Mutat 2015 Jul 18;36(7):660-8. Epub 2015 May 18.

The Jackson Laboratory, Bar Harbor, Maine.

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July 2015

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

J Hum Genet 2015 Jan;60(1):51

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January 2015

Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs.

Authors:

Ramani Soundararajan Jungyeon Won Timothy M Stearns Jeremy R Charette Wanda L Hicks Gayle B Collin Jürgen K Naggert Mark P Krebs Patsy M Nishina

PLoS One 2014 30;9(10):e110299. Epub 2014 Oct 30.

The Jackson Laboratory, Bar Harbor, Maine, United States of America.

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June 2015

GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance.

Authors:

Francesca Favaretto Gabriella Milan Gayle B Collin Jan D Marshall Fabio Stasi Pietro Maffei Roberto Vettor Jürgen K Naggert

PLoS One 2014 9;9(10):e109540. Epub 2014 Oct 9.

The Jackson Laboratory, Bar Harbor, Maine, United States of America.

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December 2015

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

J Hum Genet 2015 Jan 9;60(1):1-9. Epub 2014 Oct 9.

Institute of Child Health and Metabolism Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

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January 2015

Mutations in Alström protein impair terminal differentiation of cardiomyocytes.

Nat Commun 2014 Mar 4;5:3416. Epub 2014 Mar 4.

Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

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March 2014

Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.

Authors:

Vladimir Kuburović Jan D Marshall Gayle B Collin Keith Nykamp Nina Kuburović Tatjana Milenković Sanja Rakić Milena Djuric Jovana Ječmenica Svetislav Milenković Jürgen K Naggert

Clin Dysmorphol 2013 Jan;22(1):7-12

Mother and Child Healthcare Institute of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.

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January 2013

The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway.

Authors:

Gayle B Collin Jan D Marshall Benjamin L King Gabriella Milan Pietro Maffei Daniel J Jagger Jürgen K Naggert

PLoS One 2012 31;7(5):e37925. Epub 2012 May 31.

The Jackson Laboratory, Bar Harbor, Maine, United States of America.

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October 2012

Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome.

Authors:

Jamal Mahamid Avraham Lorber Yoseph Horovitz Stavit A Shalev Gayle B Collin Jürgen K Naggert Jan D Marshall Ronen Spiegel

Pediatr Cardiol 2013 Feb 24;34(2):455-8. Epub 2012 Mar 24.

Kupat Holim Meuhedet, Um El Fahem, Israel.

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February 2013

Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis.

Authors:

Gayle B Collin Jungyeon Won Wanda L Hicks Susan A Cook Patsy M Nishina Jürgen K Naggert

Invest Ophthalmol Vis Sci 2012 Feb 23;53(2):967-74. Epub 2012 Feb 23.

Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.

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February 2012

Proteomic analysis of mitotic RNA polymerase II reveals novel interactors and association with proteins dysfunctional in disease.

Authors:

André Möller Sheila Q Xie Fabian Hosp Benjamin Lang Hemali P Phatnani Sonya James Francisco Ramirez Gayle B Collin Jürgen K Naggert M Madan Babu Arno L Greenleaf Matthias Selbach Ana Pombo

Mol Cell Proteomics 2012 Jun 22;11(6):M111.011767. Epub 2011 Dec 22.

MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital Campus, London W12 0NN, United Kingdom.

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June 2012

Alström syndrome: genetics and clinical overview.

Authors:

Jan D Marshall Pietro Maffei Gayle B Collin Jürgen K Naggert

Curr Genomics 2011 May;12(3):225-35

The Jackson Laboratory, Bar Harbor, Maine, USA.

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May 2011

Publications by authors named "Gayle B Collin"

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