Results 101 to 110 of about 38,591 (268)

Quantifying prior probabilities for disease-causing variants reveals the top genetic contributors in inborn errors of immunity

AbstractWe present a framework to quantify the prior probability of observing known disease-causing variants across all genes and inheritance modes. First, we computed genome-wide occurrence probabilities by integrating population allele frequencies, variant classifications, and Hardy-Weinberg expectations under autosomal dominant, recessive, and X ...
Quant Group, Simon Boutry, Ali Saadat, Maarja Soomann, Johannes Trück, D. Sean Froese, Jacques Fellay, Sinisa Savic, Luregn J. Schlapbach, Dylan Lawless   +9 more
openaire   +1 more source

Comparative Cochlear Transcriptomics in Echolocating Bats and Mouse Reveals Hras as Protector Against Noise‐Induced Hearing Loss

Advanced Science, EarlyView.
Comparative cochlear transcriptomics of noise‐exposed bats (Miniopterus fuliginosus) and mice reveals bat‐specific protection mechanisms for noise‐induced hearing loss (NIHL), identifying Hras as a key hub regulator. Functional studies in mice show hair‐cell‐specific Hras overexpression significantly reduced hair‐cell damage and NIHL by activating the ...
Peng Chen, Chenhao Che, Lingjie Wu, Changjie Sun, Dongming Xu, Qinyang Hua, Yunzhong Zhang, Yi‐Quan Tang, Peng Shi, Shan Sun   +9 more
wiley   +1 more source

Tracing the shifting sands of ‘medical genetics’: what’s in a name? [PDF]

, 2010
This paper focuses on the structural development of institution-based interest in genetics in Anglo-North American medicine after 1930 concomitantly with an analysis of the changes through which ideas about heredity and the hereditary transmission of ...
Leeming, William
core   +1 more source

Treating Hearing Loss: From Cochlear Implantation to Gene Therapy

Advanced Science, EarlyView.
Cochlear implantation is the primary treatment for deafness, restoring functional hearing in over a million people. Recently, gene therapy has enabled biological hearing restoration in a small number of patients with OTOF‐related mutations. This perspective evaluates both approaches, concluding that cochlear implants will remain the standard for most ...
Fan‐Gang Zeng, Jieyu Qi, Chen‐Chi Wu, Yilai Shu, Renjie Chai   +4 more
wiley   +1 more source

Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia [PDF]

The Pan African Medical Journal, 2011
BACKGROUND: Birth defects and inborn errors of metabolism are related to variable poor perinatal and neonatal outcomes. Our aim was to explore the pattern and prevalence of birth defects and metabolic birth errors in Al-Ahsa Governorate in the Eastern ...
Waleed Hamad Al Bu Ali, Magdy Hassan Balaha, Mohammed Saleh Al Moghannum, Ibrahim Hashim   +3 more
doaj  

An Opto‐Bio‐Hydrodynamic Platform for Instructing Cardiac Left‐Right Asymmetry Development

Advanced Science, EarlyView.
By establishing mechanistic links among optically tuned ciliary dynamics, flow‐mediated signaling, and organ asymmetry, a multifunctional Opto‐Bio‐Hydrodynamic platform is developed to modulate ciliary motion with the programmable near infrared light for instructing cardiac left‐right asymmetry development in a spatiotemporally controlled manner, which
Haifeng Qin, Xiaoshuai Liu, Yufeng Lin, Guangyi Yang, Haojiang Ren, Mingyuan Cao, Zhenheng Jiao, Baojun Li, Xianchuang Zheng   +8 more
wiley   +1 more source

Respuesta inmune por anticuerpos en niños de hasta cinco años con enfermedades genéticas

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2020
Fundamento: la valoración inmunológica forma parte del tratamiento integral a los pacientes con enfermedades genéticas. Las deficiencias de anticuerpos representan las alteraciones inmunológicas más frecuentes.Objetivo: describir la respuesta de ...
Enelis Reyes-Reyes, Nora María Orive-Rodríguez, Lisset del Carmen Romero-Portelles, Maidelina Cardoso-Paredes   +3 more
doaj  

Highly Stretchable, Adhesive, and Conductive PEDOT Nanocomposite Hydrogels for High‐Performance Flexible Bioelectronics

Advanced Science, EarlyView.
A multifunctional and water‐soluble conductive nanocomposite is fabricated by employing tannic acid‐modified MXene as a template to direct the in situ polymerization of poly(3,4‐ethylenedioxythiophene) (PEDOT). The resulting PEDOT nanosheets are uniformly integrated into hydrogel networks, simultaneously imparting stretchability (>800%), strong tissue ...
Huiqi Sun, Sai Wang, Peipei Wang, Ling Bai, Mingyi Tan, Fan Yang, Rongguo Wang, Xiaodong He   +7 more
wiley   +1 more source

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism

Medicina, 2019
Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including ...
Laura Cristina Gironi, Enrico Colombo, Alfredo Brusco, Enrico Grosso, Valeria Giorgia Naretto, Andrea Guala, Eleonora Di Gregorio, Andrea Zonta, Francesca Zottarelli, Barbara Pasini, Paola Savoia   +10 more
doaj   +1 more source

A Forward Genetics Strategy for High‐Throughput Gene Identification via Precise Image‐Based Phenotyping of an Indexed EMS Mutant Library

Advanced Science, EarlyView.
The GeneHunter‐Gene‐Level Association (GH‐GLA) pipeline enables high‐throughput gene identification in an indexed EMS population of wheat cultivar KN9204. It identifies 5905 trait‐associated wheat genes and validates key regulators of kernel weight and spikelet architecture via gene editing and haplotype analysis.
Haojie Wang, Fujun Sun, Zeyu Shi, Yufeng Yang, Yi Ding, Tengteng Zhang, Caihong Zhao, Jingzhong Xie, Yaqian Zhang, Caihua Li, Wenqiang Tang, Junming Li, Xigang Liu, Shusong Zheng, Ni Jiang, Fei He, Shuzhi Zheng   +16 more
wiley   +1 more source