Results 141 to 150 of about 2,484,895 (385)

AAVR Expression is Essential for AAV Vector Transduction in Sensory Hair Cells

open access: yesAdvanced Science, EarlyView.
Decreased sensitivity to AAV vector transduction in the outer hair cells (OHCs) of adult mice is primarily attributed to reduction of AAVR (Kiaa0319l; Au040320). Knockout of AAVR reduces AAV vector transduction efficiency in both inner hair cells (IHCs) and OHCs in neonatal mice.
Fan Wu   +8 more
wiley   +1 more source

Single Administration of AAV‐mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2‐Induced Lysosomal Dysfunction in Hair Cells

open access: yesAdvanced Science, EarlyView.
Wei et al. establish a hair cell‐specific conditional knockout mouse model (Atp6v1b2fl/fl;Atoh1Cre/+), and demonstrate the importance of Atp6v1b2 for hair cell through maintaining the survival of lysosomes. A single administration of AAV‐ie‐Eh3‐mAtp6v1b2 through scala media at P0‐P2 realizes function compensation and restores hearing and balance ...
Gege Wei   +15 more
wiley   +1 more source

Lumbar fetiform teratoma; a case report

open access: yesRadiology Case Reports, 2020
Fetiform teratoma is a rare highly developed mature teratoma with organoid differentiation although it is not as developed as fetus in fetus which is the only differential diagnosis of this entity.
Fazel Rahman Faizi, MD   +1 more
doaj  

Lumbar Fetiform Teratoma: Limb in the Back – A case report

open access: yesRadiology Case Reports, 2022
Teratoma is a congenital neoplasm deriving from one or more embryonic layers. Fetiform teratoma is a highly differentiated rare type of teratoma. The authors present a 1-day-old neonate for a lumbar region mass, grossly appearing like an extremity.
Mohammad Tahir Aien, MD   +3 more
doaj  

Long‐Lasting Auditory and Vestibular Recovery Following Gene Replacement Therapy in a Novel Usher Syndrome Type 1c Mouse Model

open access: yesAdvanced Science, EarlyView.
This study shows that gene replacement therapy using the AAV2/Anc80L65 virus can successfully restore hearing and balance in Ush1c knockout mice. The treatment leads to lasting improvements in both auditory and vestibular functions, highlighting its potential as a therapeutic approach for genetic hearing loss and vestibular disorders in humans ...
Weinan Du   +13 more
wiley   +1 more source

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

open access: yesAdvanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He   +16 more
wiley   +1 more source

Obstacles in Human Service Work with Teen Mothers [PDF]

open access: yes, 2013
Research has shown that it is extremely beneficial for teen mothers to have support during their pregnancy and during their new experience of motherhood.
Casale, Chloe
core   +1 more source

DNA‐PKcs‐Driven YAP1 Phosphorylation and Nuclear Translocation: a Key Regulator of Ferroptosis in Hyperglycemia‐Induced Cardiac Dysfunction in Type 1 Diabetes

open access: yesAdvanced Science, EarlyView.
In the context of chronic hyperglycemia, a DDR is initiated, leading to the pathological activation of DNA‐PKcs in the diabetic heart. This activated DNA‐PKcs directly interacts with and phosphorylates YAP1 at Thr226, thereby increasing the nuclear expression of YAP1.
Junyan Wang   +10 more
wiley   +1 more source

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