Meharji Arumilli
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View article: The DoGA consortium expression atlas of promoters and genes in 100 canine tissues
The DoGA consortium expression atlas of promoters and genes in 100 canine tissues Open
View article: Author Correction: Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture
Author Correction: Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture Open
View article: Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human Open
Background Dilated cardiomyopathy (DCM) is a life-threatening heart disease and a common cause of heart failure due to systolic dysfunction and subsequent left or biventricular dilatation. A significant number of cases have a genetic etiol…
View article: Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture
Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture Open
View article: Dog colour patterns explained by modular promoters of ancient canid origin
Dog colour patterns explained by modular promoters of ancient canid origin Open
Distinctive colour patterns in dogs are an integral component of canine diversity. Colour pattern differences are thought to have arisen from mutation and artificial selection during and after domestication from wolves but important gaps r…
View article: Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss
Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss Open
View article: In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration Open
View article: In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration Open
We investigated the clinical, genetic, and pathological characteristics of a previously unknown severe juvenile brain disorder in several litters of Parson Russel Terriers. The disease started with epileptic seizures at 6 to 12 weeks of ag…
View article: Missense Variant in LOXHD1 is Associated With Canine Nonsyndromic Hearing Loss
Missense Variant in LOXHD1 is Associated With Canine Nonsyndromic Hearing Loss Open
Hearing loss is a common sensory deficit both in humans and dogs. In canines the genetic basis is largely unknown, as genetic variants have only been identified for a syndromic form of hearing impairment. We observed a congenital or early-…
View article: A missense variant in IFT122 associated with a canine model of retinitis pigmentosa
A missense variant in IFT122 associated with a canine model of retinitis pigmentosa Open
Retinitis pigmentosa (RP) is a blinding eye disease affecting nearly two million people worldwide. Dogs are affected with a similar illness termed progressive retinal atrophy (PRA). Lapponian herders (LHs) are affected with several types o…
View article: A missense Variant in IFT122 Associated with a Canine Model of Retinitis Pigmentosa
A missense Variant in IFT122 Associated with a Canine Model of Retinitis Pigmentosa Open
Retinitis pigmentosa (RP) is a blinding eye disease affecting nearly two million people worldwide. Dogs are affected with a similar illness termed progressive retinal atrophy (PRA). Lapponian Herders (LHs) are affected with several types o…
View article: Intronic variant in POU1F1 associated with canine pituitary dwarfism
Intronic variant in POU1F1 associated with canine pituitary dwarfism Open
View article: Dog color patterns explained by modular promoters of ancient canid origin
Dog color patterns explained by modular promoters of ancient canid origin Open
Distinctive color patterns in dogs are an integral component of canine diversity. Color pattern differences are thought to have arisen from mutation and artificial selection during and after domestication from wolves 1,2 but important gaps…
View article: Bioinformatic approaches to facilitate canine disease genetics and genomics
Bioinformatic approaches to facilitate canine disease genetics and genomics Open
Since the annotation of the dog genome in 2005, dogs have emerged as excellent models of human disease. Many disease associations of variant alleles in homologous genes have been discovered in dogs, providing new therapeutic candidates to …
View article: A putative silencer variant in a spontaneous canine model of retinitis pigmentosa
A putative silencer variant in a spontaneous canine model of retinitis pigmentosa Open
Retinitis pigmentosa (RP) is the leading cause of blindness with nearly two million people affected worldwide. Many genes have been implicated in RP, yet in 30-80% of the RP patients the genetic cause remains unknown. A similar phenotype, …
View article: Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs
Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs Open
Neonatal interstitial lung diseases due to abnormal surfactant biogenesis are rare in humans and have never been reported as a spontaneous disorder in animals. We describe here a novel lung disorder in Airedale Terrier (AT) dogs with clini…
View article: webGQT: A Shiny Server for Genotype Query Tools for Model-Based Variant Filtering
webGQT: A Shiny Server for Genotype Query Tools for Model-Based Variant Filtering Open
webGQT is made available to the users in three forms: 1) as a webserver available at https://vm1138.kaj.pouta.csc.fi/webgqt/, 2) as an R package to install on personal computers, and 3) as part of the same R package to configure on the use…
View article: Novel protective and risk loci in hip dysplasia in German Shepherds
Novel protective and risk loci in hip dysplasia in German Shepherds Open
Canine hip dysplasia is a common, non-congenital, complex and hereditary disorder. It can inflict severe pain via secondary osteoarthritis and lead to euthanasia. An analogous disorder exists in humans. The genetic background of hip dyspla…
View article: Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants
Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants Open
View article: A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia
A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia Open
Inherited skeletal disorders affect both humans and animals. In the current study, we have performed series of clinical, pathological and genetic examinations to characterize a previously unreported skeletal disease in the Karelian Bear Do…
View article: Data From: Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs
Data From: Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs Open
Dogs are excellent animal models for human disease. They have extensive veterinary histories, pedigrees, and a unique genetic system due to breeding practices. Despite these advantages, one factor limiting their usefulness is the canine ge…
View article: Author Correction: Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs
Author Correction: Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs Open
View article: Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs
Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs Open
View article: Copy number variation analysis increases the diagnostic yield in muscle diseases
Copy number variation analysis increases the diagnostic yield in muscle diseases Open
Causative CNVs were identified proving that analysis of CNVs is essential for increasing the diagnostic yield in muscle diseases. Complex severe muscular dystrophy phenotypes can be the result of different mutation types but also of the co…
View article: Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs
Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs Open
A rare hereditary mechanobullous disorder called epidermolysis bullosa (EB) causes blistering in the skin and the mucosal membranes. To date, nineteen EB-related genes have been discovered in human and other species. We describe here a nov…
View article: Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1
Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1 Open
Significance Comprehensive clinical, neurological, and genetic examinations characterized a generalized myoclonic epilepsy syndrome with photosensitivity in young Rhodesian Ridgeback dogs. The average age of onset of seizures was 6 mo. Gen…
View article: ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs
ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs Open
Acute respiratory distress syndrome (ARDS) is the leading cause of death in critical care medicine. The syndrome is typified by an exaggerated inflammatory response within the lungs. ARDS has been reported in many species, including dogs. …
View article: Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes
Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes Open
One to two percent of all children are born with a developmental disorder requiring pediatric hospital admissions. For many such syndromes, the molecular pathogenesis remains poorly characterized. Parallel developmental disorders in other …
View article: Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene
Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene Open