Associated Papers
A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis.
Mohsenipour M et al.
Bmc Medical Genomics, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Physiological functions and pharmacological targeting of transient receptor potential channels.
Chubanov V et al.
Pharmacological Reviews, 2025
Exploring human plasma proteomic variations in mucolipidosis type IV.
Tobin BR et al.
Molecular Therapy. Methods & Clinical Development, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
A Novel Homozygous Variant in the MCOLN1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism.
Ghasemi A et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Mutation of TRPML1 Channel and Pathogenesis of Neurodegeneration in Haimeria.
Gao J et al.
Molecular Neurobiology, 2024
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 2024
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Scotto Rosato A et al.
Embo Molecular Medicine, 2022
Cross-sectional Observations on the Natural History of Mucolipidosis Type IV.
Misko AL et al.
Neurology. Genetics, 2022
Peripheral Inflammatory Cytokine Signature Mirrors Motor Deficits in Mucolipidosis IV.
Misko AL et al.
Cells, 2022
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.
Jiang X et al.
Journal of the American Heart Association, 2020
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.
Jezela-Stanek A et al.
International Journal of Molecular Sciences, 2020
Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1.
Hayashi T et al.
American Journal of Medical Genetics. Part A, 2020
Comparison of pan-ethnic and ethnic-based carrier screening panels for individuals of Ashkenazi Jewish descent.
Rosenblum LS et al.
Journal of Genetic Counseling, 2020
Current concepts in the neuropathogenesis of mucolipidosis type IV.
Boudewyn LC et al.
Journal of Neurochemistry, 2019
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents?
Segal P et al.
European Journal of Medical Genetics, 2017
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Detection of carriers in the Ashkenazi Jewish population: an objective comparison of high-throughput genotyping versus gene-by-gene testing.
Klugman S et al.
Genetic Testing and Molecular Biomarkers, 2013
A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.
AlBakheet A et al.
Gene, 2013
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease.
Gan-Or Z et al.
Neurology, 2013
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.
Scott SA et al.
Human Mutation, 2010
Outcome and experience of implementing spinal muscular atrophy carrier screening on sperm donors.
Callum P et al.
Fertility and Sterility, 2010
Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation.
Tüysüz B et al.
Brain & Development, 2009
A potentially dynamic lysosomal role for the endogenous TRPML proteins.
Zeevi DA et al.
The Journal of Pathology, 2009
Isolated ocular disease is associated with decreased mucolipin-1 channel conductance.
Goldin E et al.
Investigative Ophthalmology & Visual Science, 2008
Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
Fares F et al.
Prenatal Diagnosis, 2008
Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population.
Hantash FM et al.
The Journal of Molecular Diagnostics : Jmd, 2006
Mucolipin 1: endocytosis and cation channel--a review.
Bach G
Pflugers Archiv : European Journal of Physiology, 2005
Localization of cancer susceptibility genes by genome-wide single-nucleotide polymorphism linkage-disequilibrium mapping.
Mitra N et al.
Cancer Research, 2004
Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.
Edelmann L et al.
American Journal of Human Genetics, 2002
Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.
Bargal R et al.
Human Mutation, 2001