Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse

Endogenous retroviruses function as species-specific enhancer elements in the placenta

(2013) Edward B Chuong et al.   NATURE GENETICS

Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes

(2013) Sulochana Devi et al.   Pigment Cell & Melanoma Research

Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals

(2013) Monika Reissmann et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Profound defects in pupillary responses to light in TRPM-channel null mice: a role for TRPM channels in non-image-forming photoreception

(2012) Steven Hughes et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

(2012) Isabelle Audo et al.   Orphanet Journal of Rare Diseases

LINE-1 Elements in Structural Variation and Disease

(2011) Christine R. Beck et al.   Annual Review of Genomics and Human Genetics

Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses

(2011) R. R. Bellone et al.   Briefings in Functional Genomics

A Role for Nyctalopin, a Small Leucine-Rich Repeat Protein, in Localizing the TRP Melastatin 1 Channel to Retinal Depolarizing Bipolar Cell Dendrites

(2011) J. N. Pearring et al.   JOURNAL OF NEUROSCIENCE

TRPM1 Forms Complexes with Nyctalopin In Vivo and Accumulates in Postsynaptic Compartment of ON-Bipolar Neurons in mGluR6-Dependent Manner

(2011) Y. Cao et al.   JOURNAL OF NEUROSCIENCE

Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art

(2011) M. Pruvost et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Congenital stationary night blindness is associated with the leopard complex in the miniature horse

(2011) Lynne S. Sandmeyer et al.   VETERINARY OPHTHALMOLOGY

Association analysis of candidate SNPs in TRPM1 with leopard complex spotting (LP ) and congenital stationary night blindness (CSNB) in horses

(2010) R. R. Bellone et al.   ANIMAL GENETICS

Pleiotropic effects of pigmentation genes in horses

(2010) R. R. Bellone   ANIMAL GENETICS

TRPM1: The endpoint of the mGluR6 signal transduction cascade in retinal ON-bipolar cells

(2010) Catherine W. Morgans et al.   BIOESSAYS

TRPM1: A vertebrate TRP channel responsible for retinal ON bipolar function

(2010) Chieko Koike et al.   CELL CALCIUM

Key Roles for Transforming Growth Factor β in Melanocyte Stem Cell Maintenance

(2010) Emi K. Nishimura et al.   Cell Stem Cell

Intronic miR-211 Assumes the Tumor Suppressive Function of Its Host Gene in Melanoma

(2010) Carmit Levy et al.   MOLECULAR CELL

FastTree 2 – Approximately Maximum-Likelihood Trees for Large Alignments

(2010) Morgan N. Price et al.   PLoS One

The Regulation of miRNA-211 Expression and Its Role in Melanoma Cell Invasiveness

(2010) Joseph Mazar et al.   PLoS One

Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness

(2009) Maria M. van Genderen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

(2009) Isabelle Audo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

(2009) Zheng Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Calcium homeostasis in human melanocytes: role of transient receptor potential melastatin 1 (TRPM1) and its regulation by ultraviolet light

(2009) Sulochana Devi et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

ESG: extended similarity group method for automated protein function prediction

(2009) Meghana Chitale et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Endogenous retroviral LTRs as promoters for human genes: A critical assessment

(2009) Carla J. Cohen et al.   GENE

A Transient Receptor Potential-Like Channel Mediates Synaptic Transmission in Rod Bipolar Cells

(2009) Y. Shen et al.   JOURNAL OF NEUROSCIENCE

FastTree: Computing Large Minimum Evolution Trees with Profiles instead of a Distance Matrix

(2009) M. N. Price et al.   MOLECULAR BIOLOGY AND EVOLUTION

A rapid column-based ancient DNA extraction method for increased sample throughput

(2009) NADIN ROHLAND et al.   Molecular Ecology Resources

Discovery of short pseudogenes derived from messenger RNAs

(2009) Goro Terai et al.   NUCLEIC ACIDS RESEARCH

TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells

(2009) Catherine W. Morgans et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade

(2009) C. Koike et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TRPM1 Forms Ion Channels Associated with Melanin Content in Melanocytes

(2009) E. Oancea et al.   Science Signaling

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

(2009) Ben Langmead et al.   GENOME BIOLOGY

Retroviral promoters in the human genome

(2008) Andrew B. Conley et al.   BIOINFORMATICS

Differential Gene Expression of TRPM1, the Potential Cause of Congenital Stationary Night Blindness and Coat Spotting Patterns (LP) in the Appaloosa Horse (Equus caballus)

(2008) R. R. Bellone et al.   GENETICS

Analyzing real-time PCR data by the comparative CT method

(2008) Thomas D Schmittgen et al.   Nature Protocols

PFP: Automated prediction of gene ontology functional annotations with confidence scores using protein sequence data

(2008) Troy Hawkins et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS