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Akademický článek

Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia

Autor: Zahra Nouri, Akram Sarmadi, Sina Narrei, Hamidreza Kianersi, Farzan Kianersi, Mohammad Amin Tabatabaiefar

Publikováno v: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)

Abstract Background Autosomal recessive non-syndromic hearing loss (NSHL) and cone dystrophies (CODs) are highly genetically and phenotypically heterogeneous disorders. In this study, we applied the whole exome sequencing (WES) to find the cause of H

Externí odkaz: https://doaj.org/article/0953796e171344b2b31b2ac8dbdb4ba3

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Akademický článek

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Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report

Autor: Maria Eugenia Amato, Silvia Ricart, Maria Asunción Vicente, Loreto Martorell, Judith Armstrong, Guerau Fernández Isern, José Manuel Mascaro, Sol Balsells, Itziar Alonso, Mercedes Serrano, Juan Darío Ortigoza‐Escobar

Publikováno v: Clinical Case Reports, Vol 11, Iss 4, Pp n/a-n/a (2023)

Key Clinical Message The presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time. Administration of gene therapy could be extremely difficult in particula

Externí odkaz: https://doaj.org/article/272214c56e584787973dde41991b0204

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Akademický článek

Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss

Autor: Qiang Du, Qin Sun, Xiaodong Gu, Jinchao Wang, Weitao Li, Luo Guo, Huawei Li

Publikováno v: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-9 (2022)

Abstract Hearing loss is the most common sensory neural disorder in humans, and according to a WHO estimation, 5.5% (466 million) of people worldwide have disabling hearing loss. In this study, a Chinese family with prelingual sensorineural hearing l

Externí odkaz: https://doaj.org/article/2bffbb42101b46b4bb9df8a6ede1a489

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Akademický článek

A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss

Autor: Hossein Fahimi, Samira Behroozi, Sadaf Noavar, Farshid Parvini

Publikováno v: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)

Abstract Background Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic and non-syndromic hearing loss. Here, we investigate the genetic etiology

Externí odkaz: https://doaj.org/article/826d40a9695f4866847f7028041f60c4

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Akademický článek

Deciphering the Molecular Interaction Between the Adhesion G Protein-Coupled Receptor ADGRV1 and its PDZ-Containing Regulator PDZD7

Autor: Baptiste Colcombet-Cazenave, Florence Cordier, Yanlei Zhu, Guillaume Bouvier, Eleni Litsardaki, Louise Laserre, Marie S. Prevost, Bertrand Raynal, Célia Caillet-Saguy, Nicolas Wolff

Publikováno v: Frontiers in Molecular Biosciences, Vol 9 (2022)

Hearing relies on the transduction of sound-evoked vibrations into electrical signals, occurring in the stereocilia bundle of inner ear hair cells. The G protein-coupled receptor (GPCR) ADGRV1 and the multi-PDZ protein PDZD7 play a critical role in t

Externí odkaz: https://doaj.org/article/52f3ec99a48d47a2879364a0611f599a

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Akademický článek

Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

Autor: María González-del Pozo, Elena Fernández-Suárez, Marta Martín-Sánchez, Nereida Bravo-Gil, Cristina Méndez-Vidal, Enrique Rodríguez-de la Rúa, Salud Borrego, Guillermo Antiñolo

Publikováno v: Journal of Translational Medicine, Vol 18, Iss 1, Pp 1-12 (2020)

Abstract Background Retinitis Pigmentosa (RP) is a clinically and genetically heterogeneous disorder that results in inherited blindness. Despite the large number of genes identified, only ~ 60% of cases receive a genetic diagnosis using targeted-seq

Externí odkaz: https://doaj.org/article/fd2f21bf69874880b7e39fa90a753520

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Structure and Membrane Targeting of the PDZD7 Harmonin Homology Domain (HHD) Associated With Hearing Loss

Autor: Lin Lin, Huang Wang, Decheng Ren, Yitian Xia, Guang He, Qing Lu

Publikováno v: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

Usher syndrome (USH) is the leading cause of hereditary hearing–vision loss in humans. PDZ domain-containing 7 (PDZD7) has been reported to be a modifier of and contributor to USH. PDZD7 co-localizes with USH2 proteins in the inner ear hair cells a

Externí odkaz: https://doaj.org/article/e0c2bd7123144f4f8633bb67a2029a84

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