Results 41 to 50 of about 8,250 (205)

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

A novel p.Leu213X mutation in GJB2 gene in a Portuguese family [PDF]

International Journal of Pediatric Otorhinolaryngology, 2013
Hearing loss is the most common sensory disability and is present in about 1.9 per 1000 infants at birth. The DFNB1 locus (13q11-q12) includes the genes GJB2, coding for connexin 26, and GJB6, encoding connexin 30. More than 100 mutations have been identified associated with autosomal dominant and recessive hearing loss in the GJB2 gene.The aim of the ...
Ana Cláudia, Gonçalves, Joana, Chora, Tiago D, Matos, Ricardo, Santos, Assunção, O'Neill, Pedro, Escada, Graça, Fialho, Helena, Caria   +7 more
openaire   +2 more sources

Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene

Stem Cell Research, 2020
Gap junction protein beta 2 gene (GJB2) mutations are the most frequent cause of hereditary hearing impairment. The recessive c.235delC mutation in the GJB2 gene is the most common mutation causing severe to profound sensorineural hearing loss in the ...
Chun-Ying Huang, Yi-Hsiu Tsai, Yi-Ching Tsai, Ying-Chang Lu, Yen-Hui Chan, Chuan-Jen Hsu, Shih-Hwa Chiou, Chen-Chi Wu, Yen-Fu Cheng   +8 more
doaj   +1 more source

Triggered Calcium Lightning Programs Cochlear Development

Exploration, EarlyView.
Summary: Before the onset of hearing, the developing inner ear generates spontaneous calcium signals that are thought to guide maturation. In this study, we discovered a rapid and widespread calcium flash—dubbed “Ca2+ lightning”—originating from supporting cells beneath the sensory hair cells, which triggers coordinated calcium waves across the entire ...
Qiang Ma, Hai‐Peng Wang, Yu‐Meng Jiang, Ke Lai, Ming‐Xian Li, Zhen Zhang, Li‐Na Gong, Jing‐Wei Lai, Kai‐Ming Su, Lu‐Yang Wang, Hui Wang, Shan‐Kai Yin, Hao He, Hai‐Bo Shi   +13 more
wiley   +1 more source

Restoration, Not Bypass: Otoferlin Gene Therapy and a New Era in Hearing Loss Treatment

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract The FDA approval of Otarmeni, an AAV‐based gene therapy for biallelic OTOF‐associated sensorineural hearing loss, represents a conceptual shift in otology: from bypassing defective auditory physiology to restoring it. Unlike cochlear implantation, which circumvents damaged sensory structures, OTOF gene replacement targets a synaptic deficit in
Jazlyn A. Selvasingh, Justin R. Shinn
wiley   +1 more source

Specific Distribution of GJB2 Mutations in Kurdistan Province of Iran; Report of a Relatively Isolated Population [PDF]

Journal of Sciences, Islamic Republic of Iran, 2017
Hearing Loss (HL) represents high genetic heterogeneity with an incidence of almost 1 out of 500 newborns in most populations. Approximately half of the cases have a genetic basis that most of them are autosomal recessive non-syndromic (ARNSHL) with ...
T. Bahrami, N. Jalilian, G. Karbasi, M. R. Noori- Daloii   +3 more
doaj  

Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss

Journal of Translational Medicine, 2019
Background Hearing loss (HL) is the most common disability of human senses characterized by a great allelic heterogeneity. GJB2 and TMPRSS3 are two well-known HL genes typically underlying its monogenic form.
Monika Ołdak, Urszula Lechowicz, Agnieszka Pollak, Dominika Oziębło, Henryk Skarżyński   +4 more
doaj   +1 more source

Cutaneous lymphomas – an update

Histopathology, EarlyView.
Primary cutaneous lymphomas and lymphoproliferative disorders are defined by integrated clinical, histopathological, immunophenotypic and genetic features as diagnostic criteria also in the 5th edition of the WHO classification of haematolymphoid tumors.
Werner Kempf, Christina Mitteldorf
wiley   +1 more source

Mutation analysis of GJB2 gene.

, 2014
Note: * The frequency of GJB2 genotypes was calculated in random sample; in bold are GJB2 genotypes selected for comparative analysis of hearing thresholds.
Adyum M. Rafailo (588341), Lilya U. Dzhemileva (588345), Fedor M. Teryutin (588328), Nikolay V. Luginov (588342), Elena V. Zakharova (588338), Aisen V. Solovyev (588330), Elza K. Khusnutdinova (258931), Natalya A. Solovyeva (588332), Nyurgun N. Gotovtsev (588340), Maria V. Pak (588336), Sargylana N. Lekhanova (588337), Kyunney E. Savvinova (588339), Lena M. Vasilyeva (588334), Anatoliy N. Alexeev (588343), Sardana A. Fedorova (273256), Nikolay A. Barashkov (588327), Vera G. Pshennikova (588329), Olga L. Posukh (588344), Leonid A. Klarov (588331), Andrei A. Kozhevnikov (588333), Elvira E. Fedotova (588335)   +20 more
core   +1 more source

IL-4 downregulates gap junction protein connexin 26 to promote HIV-1 infection in macrophages

mBio
Macrophages and dendritic cells (DCs) are important targets for HIV-1 replication in vivo. Myeloid cells are collectively more resistant to HIV-1 infection than CD4+ T lymphocytes, but interleukin (IL)-4 has been observed to promote macrophage ...
Shumei Wang, Jingjing Zhang, Yuan Liu, Li Zhao, Yimin Zhang, Guoxin Liang, Hong Shang   +6 more
doaj   +1 more source