Human Organoids for Rapid Validation of Gene Variants Linked to Cochlear Malformations DOI Creative Commons
Mohammad Faraz Zafeer, Memoona Ramzan, Duygu Duman

и другие.

Research Square (Research Square), Год журнала: 2024, Номер unknown

Опубликована: Июнь 11, 2024

Abstract Developmental anomalies of the hearing organ, cochlea, are diagnosed in approximately one-fourth individuals with congenital deafness. Most patients cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or inability make conclusive interpretations identified genetic variants. We used exome sequencing for evaluation loss associated three probands from unrelated families. subsequently generated monoclonal induced pluripotent stem cell (iPSC) lines, bearing patient-specific knockins and knockouts using CRISPR/Cas9 assess pathogenicity candidate detected FGF3 (p.Arg165Gly) GREB1L (p.Cys186Arg), variants uncertain significance two recognized deafness, PBXIP1(p.Trp574*) a gene. Upon differentiation iPSCs towards inner ear organoids, we observed significant developmental aberrations knockout lines compared their isogenic controls. Patient-specific single nucleotide (SNVs) showed similar abnormalities as functionally supporting causality phenotype. Therefore, present human organoids tool rapidly validate DNA malformations.

Язык: Английский

Optimized inner ear organoids for efficient hair cell generation and ototoxicity response modeling DOI

Xuan-He Qin,

Liping Fu, Chunying Li

и другие.

Science China Life Sciences, Год журнала: 2025, Номер unknown

Опубликована: Янв. 23, 2025

Язык: Английский

Процитировано

1
Human organoids for rapid validation of gene variants linked to cochlear malformations DOI Creative Commons
Mohammad Faraz Zafeer, Memoona Ramzan, Duygu Duman

и другие.

Human Genetics, Год журнала: 2025, Номер unknown

Опубликована: Янв. 9, 2025

Язык: Английский

Процитировано

0
Emerging Trends in Biosensor and Microfluidics Integration for Inner Ear Theragnostics DOI Creative Commons
Behrouz Aghajanloo, Simin Nazarnezhad,

Faezeh Arshadi

и другие.

Biosensors and Bioelectronics, Год журнала: 2025, Номер 286, С. 117588 - 117588

Опубликована: Май 15, 2025

Advancements in inner ear theragnostics are critical for addressing the pervasive challenges of diagnosing and treating hearing balance disorders, which significantly impact quality life. This paper reviews biosensors devices that leverage advanced functional nanomaterials, microfabrication techniques, nano-biotechnology to enhance theragnostic applications ear. The highlights development diverse electromechanical, electrochemical, biomarker sensors theragnostics. Electromechanical replicate cochlear vestibular sensory structures through bioinspired designs, while electrochemical used measure level ions chemicals fluid, providing insights into health disease organs. Biomarker focus on screening diseases early detection correlated biomarkers based point care diagnostics. study also examines use microfluidic with elements provide a compact integrated model fluid-filled cochlea. In addition, delivery strategies, including targeted drug systems nanocarriers explored their ability improve penetration distribution therapeutics within importance pharmacokinetics post-treatment monitoring as indicators assessing efficacy micro/nanotechnology-based approaches. By consolidating these innovations, this work offers comprehensive framework advancing otology, paving way novel diagnostic tools, effective treatments, future clinical applications.

Язык: Английский

Процитировано

0
Dexamethasone nanocrystals-embedded hydroxypropyl methylcellulose hydrogel increases cochlear delivery and attenuates hearing loss following intratympanic injection DOI
Min Young Jeong, Subin Kim, Hyerim Kim

и другие.

Carbohydrate Polymers, Год журнала: 2024, Номер 345, С. 122546 - 122546

Опубликована: Июль 30, 2024

Язык: Английский

Процитировано

2
Recent Progress in Generation of Inner Ear Organoid DOI

Yanjun Zong,

Xiaozhou Liu,

Yaqi Zhang

и другие.

Advanced Biology, Год журнала: 2024, Номер 8(10)

Опубликована: Июль 25, 2024

Abstract Inner ear organoids play a crucial role in hearing research. In comparison to other animal models and 2D cell culture systems, inner offer significant advantages for studying the mechanisms of development exploring novel approaches disease treatment. derived from human cells are more closely resemble normal organs function. The 3D system organoid enhances cell–cell interactions mimics internal environment. this review, progress limitations methods tissue‐specific progenitors pluripotent stem (PSCs) summarized, which may new insights into generating that terms morphology

Язык: Английский

Процитировано

1
SSTE: Syllable-Specific Temporal Encoding to FORCE-learn audio sequences with an associative memory approach DOI
Nastaran Jannesar, Kaveh Akbarzadeh-Sherbaf, Saeed Safari

и другие.

Neural Networks, Год журнала: 2024, Номер 177, С. 106368 - 106368

Опубликована: Май 7, 2024

Язык: Английский

Процитировано

0
Human Organoids for Rapid Validation of Gene Variants Linked to Cochlear Malformations DOI Creative Commons
Mohammad Faraz Zafeer, Memoona Ramzan, Duygu Duman

и другие.

Research Square (Research Square), Год журнала: 2024, Номер unknown

Опубликована: Июнь 11, 2024

Abstract Developmental anomalies of the hearing organ, cochlea, are diagnosed in approximately one-fourth individuals with congenital deafness. Most patients cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or inability make conclusive interpretations identified genetic variants. We used exome sequencing for evaluation loss associated three probands from unrelated families. subsequently generated monoclonal induced pluripotent stem cell (iPSC) lines, bearing patient-specific knockins and knockouts using CRISPR/Cas9 assess pathogenicity candidate detected FGF3 (p.Arg165Gly) GREB1L (p.Cys186Arg), variants uncertain significance two recognized deafness, PBXIP1(p.Trp574*) a gene. Upon differentiation iPSCs towards inner ear organoids, we observed significant developmental aberrations knockout lines compared their isogenic controls. Patient-specific single nucleotide (SNVs) showed similar abnormalities as functionally supporting causality phenotype. Therefore, present human organoids tool rapidly validate DNA malformations.

Язык: Английский

Процитировано

0