Article
Cell Biology
Ana C. Abbott, Isaac E. Garcia, Felipe Villanelo, Carolina Flores-Munoz, Ricardo Ceriani, Jaime Maripillan, Joel Novoa-Molina, Cindel Figueroa-Cares, Tomas Perez-Acle, Juan C. Saez, Helmuth A. Sanchez, Agustin D. Martinez
Summary: It has been demonstrated that a genetic mutation in the gap junction protein Connexin 26 (Cx26) can lead to hyperactivity and damage of hearing cells in the cochlea, resulting in syndromic deafness. The specific mutation Cx26S17F, when co-expressed with wild-type connexins like Cx30, forms hyperactive hemichannels in supporting cells of the organ of Corti. These hyperactive hemichannels are insensitive to blockers and ions, leading to abnormal calcium influx and cellular damage.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Review
Genetics & Heredity
Karina Lezirovitz, Regina Celia Mingroni-Netto
Summary: Genetic studies on non-syndromic hearing loss in Latin America have focused on assessing gene frequencies and have made unique contributions to the field. Despite some similarities with European and North American countries, populations in Latin America have exhibited distinct characteristics, highlighting the need for tailored screening and diagnosis strategies for specific geographic regions.
Article
Medicine, General & Internal
Ting Zhang, Renjie Su, Wen Xiang, Wenbin Wang
Summary: This study investigates a Chinese pedigree with maternally inherited non-syndromic hearing loss. Biochemical characterizations of cybrid cell lines derived from an affected matrilineal subject and control subject reveal that the m.14502 T>C mutation decreases ND6 protein synthesis, mitochondrial membrane potential, and ATP synthesis. These mitochondrial dysregulations enhance the generation of ROS in the mutant cells.
IRISH JOURNAL OF MEDICAL SCIENCE
(2023)
Review
Genetics & Heredity
Olga L. Posukh
Summary: The prevalence and genetic diversity of hereditary hearing loss vary significantly in different populations in Russia. The GJB2 gene has been studied in relation to HL in various ethnic populations, but research on other deafness genes is still limited. Russia's multiethnic population provides a unique opportunity to study the genetic etiology of HL across diverse ethnic groups.
Review
Genetics & Heredity
Ignacio del Castillo, Matias Morin, Maria Dominguez-Ruiz, Miguel A. Moreno-Pelayo
Summary: The genetic etiology of non-syndromic hearing impairment (NSHI) in Europe is complex and involves a large number of genes, with variations in mutation frequencies and most common mutations across different populations. DFNB1 is the most common form of autosomal recessive NSHI, while DFNA22 and DFNA8/12 are the most common forms of autosomal dominant NSHI.
Article
Endocrinology & Metabolism
Catarina I. I. Goncalves, Josianne N. N. Carrico, Omneya M. M. Omar, Ebtesam Abdalla, Manuel C. C. Lemos
Summary: HDR syndrome, caused by GATA3 gene mutations, is a rare autosomal dominant disorder characterized by hypoparathyroidism, deafness, and renal dysplasia. We report a case of an 11-year-old girl with HDR syndrome caused by a heterozygous mutation at the splice acceptor site of exon 5 of the GATA3 gene. Functional studies showed that this mutation led to abnormal splicing of GATA3 mRNA, resulting in the loss of a specific sequence from exon 5.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Genetics & Heredity
Yi-Dan Liu, Shu-Shu Huang, Mei Li, Monkol Lek, Dan-Yu Song, Dan-Dan Tan, Xiao-Yu Chen, Hong Zhang, Jie-Yu Liu, Xing-Zhi Chang, Hui Xiong
Summary: This study reported a Chinese patient with RP, cataracts, intellectual disability, and myopathy, and identified compound heterozygous mutations in the RDH11 gene. Furthermore, immunofluorescence staining revealed mislocalization of RDH11 protein in the patient's muscle cells.
Article
Gastroenterology & Hepatology
Jilei Zhang, Yongguo Zhang, Yinglin Xia, Jun Sun
Summary: VDR deficiency affects the gut virome and interactions between viruses and bacteria, with specific cell deletions leading to changes in viral species. VDR Delta Lyz mice showed significantly altered virus species, especially in females, and a correlation between viral and bacterial alterations. Tissue-specific VDR deletion alters viral receptors, PRR expression, and metabolites related to virus infection, affecting the virome and increasing infection risk.
Review
Clinical Neurology
Xiya Shen, Ailian Du
Summary: The m.3243A>G mutation in the mitochondrial DNA tRNA Leu (UUR) gene is a common pathogenic mutation with diverse clinical phenotypes affecting various organs. This mutation can present individually or in combination with other syndromes, making diagnosis challenging. Current research has made progress in understanding cardiac manifestations and complications during pregnancy and childbirth associated with this mutation.
Article
Genetics & Heredity
Abdelmajid Moussaoui, Meriem El Qabli, Latifa Adarmouch, Nisrine Aboussair
Summary: The study estimated the frequency of the homozygote 35delG mutation in patients with non-syndromic hearing loss in North Africa, with 28.80% of patients found to carry the mutation. While research on the 35delG mutation is useful for investigating the genetic etiology of hearing loss, including other gene candidates may lead to better identification of the etiology in patients negative for the 35delG mutation.
Article
Medicine, General & Internal
Michael C. Ukaegbu, Clement Nwawolo, Tobechukwu E. Okeke, Patricia O. Iheme, Jamey P. Mairiga
Summary: This study determines the mode of inheritance, severity, frequency, and age of onset of non-syndromic SNHL, and also investigates the contribution of CX 26 and CX 30 gene mutations in its pathogenesis. A high prevalence of autosomal recessive mode of inheritance and the discovery of a novel mutation, Leu 56 His, are reported.
GOMAL JOURNAL OF MEDICAL SCIENCES
(2023)
Article
Physiology
Helmuth A. Sanchez, Nefeli Slavi, Miduturu Srinivas, Vytas K. Verselis
JOURNAL OF GENERAL PHYSIOLOGY
(2016)
Review
Biochemistry & Molecular Biology
Isaac E. Garcia, Helmuth A. Sanchez, Agustin D. Martinez, Mauricio A. Retamal
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
(2018)
Article
Cell Biology
Helmuth A. Sanchez, Juan A. Orellana, Vytas K. Verselis, Juan C. Saez
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2009)
Article
Cell Biology
Kurt A. Schalper, Helmuth A. Sanchez, Sung C. Lee, Guillermo A. Altenberg, Michael H. Nathanson, Juan C. Saez
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2010)
Article
Biochemistry & Molecular Biology
Helmuth A. Sanchez, Rick Bienkowski, Nefeli Slavi, Miduturu Srinivas, Vytas K. Verselis
JOURNAL OF BIOLOGICAL CHEMISTRY
(2014)
Article
Physiology
Helmuth A. Sanchez, Guelistan Mese, Miduturu Srinivas, Thomas W. White, Vytas K. Verselis
JOURNAL OF GENERAL PHYSIOLOGY
(2010)
Article
Physiology
Clio Rubinos, Helmuth A. Sanchez, Vytas K. Verselis, Miduturu Srinivas
JOURNAL OF GENERAL PHYSIOLOGY
(2012)
Review
Neurosciences
Helmuth A. Sanchez, Vytas K. Verselis
FRONTIERS IN CELLULAR NEUROSCIENCE
(2014)
Article
Biochemistry & Molecular Biology
Carolina Flores-Munoz, Jaime Maripillan, Jacqueline Vasquez-Navarrete, Joel Novoa-Molina, Ricardo Ceriani, Helmuth A. Sanchez, Ana C. Abbott, Caroline Weinstein-Oppenheimer, Donald I. Brown, Ana Maria Cardenas, Isaac E. Garcia, Agustin D. Martinez
Summary: The study revealed that Panx1 channels play a crucial role in human dermal fibroblast migration during wound healing, with their absence or inhibition accelerating cell migration and promoting actin redistribution. This occurs through the release of ATP to the extracellular space and activation of the purinergic receptor P2X7.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Jorge Gonzalez-Casanova, Oliver Schmachtenberg, Agustin D. Martinez, Helmuth A. Sanchez, Paloma A. Harcha, Diana Rojas-Gomez
Summary: Diabetic retinopathy is a major cause of vision loss in the working age population, characterized by progressive deterioration of retinal microvasculature due to long-term metabolic changes. Gap junction channels and connexin hemichannels have been identified as key factors in the pathogenesis of diabetic retinopathy. Understanding the physiological impact of diabetes on these channels and their role in the disease process could lead to the development of novel pharmacological interventions.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Neurosciences
Sofia Waissbluth, Juan Cristobal Maass, Helmuth A. Sanchez, Agustin D. Martinez
Summary: This article discusses the effects of cisplatin on the inner ear and its potential mechanisms for causing hearing loss, focusing on the role of transporters and gap junctions expressed by supporting cells in this process.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Neurosciences
Juan A. Orellana, Xavier F. Figueroa, Helmuth A. Sanchez, Susana Contreras-Duarte, Victoria Velarde, Juan C. Saez
CNS & NEUROLOGICAL DISORDERS-DRUG TARGETS
(2011)
Article
Cell Biology
Eliseo A. Eugenin, Hernan E. Gonzalez, Helmuth A. Sanchez, Maria C. Branes, Juan C. Saez
CELLULAR IMMUNOLOGY
(2007)
Article
Neurosciences
JE Contreras, HA Sánchez, LP Véliz, FF Bukauskas, MVL Bennett, JC Sáez
BRAIN RESEARCH REVIEWS
(2004)