Zobrazeno 1 - 10
of 1 252
pro vyhledávání: '"Whole-exome sequencing (WES)"'
Autor:
Aysan Moeinafshar, Sahand Tehrani Fateh, Farzad Hashemi-Gorji, Parvaneh Karimzadeh, Elham Gholibeglou, Masoumeh Rostami, Hossein Sadeghi, Mohammad Miryounesi, Mohammad-Reza Ghasemi
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-18 (2024)
Abstract Background Hereditary sensory and autonomic neuropathy type 9 (HSAN9) is a rare genetic disorder caused by genetic alterations in the TECPR2 locus and is characterized by developmental and intellectual disability, respiratory dysfunction, ga
Externí odkaz:
https://doaj.org/article/82216a2419d64065b9dce79b597c862c
Autor:
Qiang Du, Yike Zhang, Rujian Hong, Nuermaimaiti Tulamaiti, Maiheba Abulaiti, Nueraili Awuti, Wulamu Wusiman, Xirinayi Alimu, Ayinuer Wusiman, Nueraihaimaiti Kadier, Huilin Li, Zhifei Zhang, Huan Qi, Zhipeng Xia, Ayituersun Abudukeyoumu, Huawei Li, Luo Guo
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-14 (2024)
Abstract Over 700 syndromes associated with hearing loss (HL) have been identified. Labyrinthine aplasia, microtia, and microdontia (LAMM syndrome, OMIM: 610706) is a rare HL syndrome characterized by congenital sensorineural HL, labyrinthine aplasia
Externí odkaz:
https://doaj.org/article/f403e89d8e024798b2a0d5e23436537a
Autor:
Xuesai Zhu, Shenjie Sun, Yizhi Yao, Fan Jiang, Fenghua Yang, Haibo Zhao, Zichao Xue, Shiyou Dai, Tengbo Yu, Xiao Xiao
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Anterior cruciate ligament (ACL) injury is a common orthopedic disease with a high incidence, long recovery time, and often requiring surgical treatment. However, the susceptibility factors for ACL injury are currently unclear, and there is
Externí odkaz:
https://doaj.org/article/5b117509e7174ab296fa971128c93e95
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 10, Pp 11021-11030 (2024)
Retinitis pigmentosa (RP) encompasses a diverse range of hereditary, degenerative retinal ailments, presenting notable obstacles to molecular genetic diagnoses due to the intricate array of variants in different genes involved. This study enrolled 21
Externí odkaz:
https://doaj.org/article/4bdfbae9525542c18b1c21cb54833219
Publikováno v:
Diagnostic Pathology, Vol 19, Iss 1, Pp 1-5 (2024)
Abstract Cystic fibrosis (CF) is an autosomal recessive inherited disease caused by variants of cystic fibrosis transmembrane conductance regulation (CFTR) gene. This report presents a case of a Chinese boy diagnosed with CF, attributed to the presen
Externí odkaz:
https://doaj.org/article/8669ce2fb6a94df7a4d2e52e4186954a
Autor:
Yolande van Bever, Ruben G Boers, Hennie T Brüggenwirth, Wilfred Fj van IJcken, Frank J Magielsen, Annelies de Klein, Joachim B Boers, Leendert Hj Looijenga, Erwin Brosens, Joost Gribnau, Sabine E Hannema
Publikováno v:
Epigenetics, Vol 19, Iss 1 (2024)
In patients with proximal hypospadias, often no genetic cause is identified despite extensive genetic testing. Many genes involved in sex development encode transcription factors with strict timing and dosing of the gene products. We hypothesised tha
Externí odkaz:
https://doaj.org/article/71fec12029654280bacf538ebc935943
Autor:
Marta Casula, Daniela Marchetti, Lucia Trevisan, Laura Pezzoli, Matteo Bellini, Serena Patrone, Antonio Zingarelli, Fabio Gotta, Maria Iascone, Paola Mandich
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
Spontaneous coronary artery dissection (SCAD) is a relevant non-atherosclerotic cause of acute coronary syndrome with a complex genetic architecture. Recent discoveries have highlighted the potential role of miRNAs and protein-coding genes involved i
Externí odkaz:
https://doaj.org/article/c2fed8fc37084d1e90c4a1d7c8c7c8fe
Autor:
Mingyu Han, Wei Shi, Xiangxiang Chen, Dingwen Wu, Yi Sun, Weiyan Wang, Canyang Zhan, Lingling Hu, Tianming Yuan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 8, Pp n/a-n/a (2024)
ABSTRACT Background Feeding difficulties frequently co‐occur with multisystem disorders attributed to rare genetic diseases. In this study, we aimed to describe the genetic manifestations and phenotype spectrum in infants experiencing feeding diffi
Externí odkaz:
https://doaj.org/article/77c653713e4b4b75b90cc071f3ea5201
Autor:
Lei Wu, Juan Zhang, Danjie Li, Zhongyun Zhang, Qicheng Ni, Rulai Han, Lei Ye, Yifei Zhang, Jie Hong, Weiqing Wang, Guang Ning, Weiqiong Gu
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundThe WFS1 gene encodes the protein wolframin, which is crucial for maintaining endoplasmic reticulum homeostasis. Variants in this gene are predominantly associated with Wolfram syndrome and have been implicated in other disorders such as di
Externí odkaz:
https://doaj.org/article/ce5c793a14e54f4d9c3dc7a832237736
Autor:
Xinrong Zhang, Jiebin Wu, Jianteng Zhou, Jie Liang, Yu Han, Yunmeng Qi, Tao Zhu, Dejian Yuan, Zuobin Zhu, Jingfang Zhai
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundTo investigate whether the novel mutation of PKHD1 could cause polycystic kidney disease by affecting splicing with a recessive inheritance pattern.MethodsA nonconsanguineous Chinese couple with two recurrent pregnancies showed fetal enlarg
Externí odkaz:
https://doaj.org/article/c1efb444e37745188c80e43364c16a43