Zobrazeno 1 - 10
of 807
pro vyhledávání: '"novel mutations"'
Autor:
Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Aysan Moeinafshar, Hossein Sadeghi, Parvaneh Karimzadeh, Reza Mirfakhraie, Mitra Rezaei, Farzad Hashemi-Gorji, Morteza Rezvani Kashani, Fatemehsadat Fazeli Bavandpour, Saman Bagheri, Parinaz Moghimi, Masoumeh Rostami, Rasoul Madannejad, Hassan Roudgari, Mohammad Miryounesi
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-28 (2024)
Abstract Background Pontocerebellar hypoplasia is an umbrella term describing a heterogeneous group of prenatal neurodegenerative disorders mostly affecting the pons and cerebellum, with 17 types associated with 25 genes. However, some types of PCH l
Externí odkaz:
https://doaj.org/article/f8b83656e19b40b8b1e10d8074983c45
Autor:
Xiuqin Bao, Danqing Qin, Jicheng Wang, Jing Chen, Cuize Yao, Jie Liang, Kailing Liang, Yixia Wang, Yousheng Wang, Li Du, Aihua Yin
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-5 (2023)
Abstract Background β-Thalassemia is mainly caused by point mutations in the β-globin gene cluster. With the rapid development of sequencing technic, more and more variants are being discovered. Results In this study, we found two novel deletion mu
Externí odkaz:
https://doaj.org/article/409a8ace333143a18f88cc9920f25a84
Autor:
Fatemeh Norouzi Rostami, Hossein Sadeghi, Farzad Hashemi-Gorji, Sahand Tehrani Fateh, Reza Mirfakhraie, Parvaneh Karimzadeh, Milad Davarpanah, Sanaz Jamshidi, Rasoul Madannejad, Parinaz Moghimi, Mahdis Ekrami, Mohammad Miryounesi, Mohammad-Reza Ghasemi
Publikováno v:
Heliyon, Vol 10, Iss 6, Pp e27434- (2024)
Background and aims: The occurrence of thiamine metabolism dysfunction syndrome (THMD), a rare autosomal recessive condition, may be linked to various mutations found in the TPK1 and SLC19A3 genes. The disease chiefly manifests through ataxia, muscle
Externí odkaz:
https://doaj.org/article/1355e9614303414794d1ae8b428c161e
Autor:
Özge Vural, Hatice Tuba Atalay, Gulsum Kayhan, Bercin Tarlan, Merve Oral, Arzu Okur, Faruk Güçlü Pınarlı, Ceyda Karadeniz
Publikováno v:
International Journal of Ophthalmology, Vol 16, Iss 8, Pp 1274-1279 (2023)
AIM: To assess the clinical and genetic characteristics of children diagnosed with retinoblastoma (RB) at Gazi University Faculty of Medicine's Department of Pediatric Oncology. METHODS: All cases diagnosed with RB and received treatment and follow-u
Externí odkaz:
https://doaj.org/article/42a22ee112084ecdaddddae544c77019
Publikováno v:
Blood Pressure, Vol 32, Iss 1 (2023)
Aim: 17 α-hydroxylase/17,20-lyase deficiency (17-OHD) is an extremely rare autosomal recessive disorder that typically causes hypertension, hypokalaemia, primary amenorrhoea, and the absence of secondary sex characteristics in 46,XX individuals. Par
Externí odkaz:
https://doaj.org/article/556f749a959141e8b12c3811aa999b00
Autor:
Leonardo Souza Esteves, Lia Lima Gomes, Daniela Brites, Fátima Cristina Onofre Fandinho, Marcela Bhering, Márcia Aparecida da Silva Pereira, Emilyn Costa Conceição, Richard Salvato, Bianca Porphirio da Costa, Reginalda Ferreira de Melo Medeiros, Paulo Cesar de Souza Caldas, Paulo Redner, Margareth Pretti Dalcolmo, Vegard Eldholm, Sebastien Gagneux, Maria Lucia Rossetti, Afrânio Lineu Kritski, Philip Noel Suffys
Publikováno v:
Antibiotics, Vol 13, Iss 6, p 496 (2024)
The present study aimed to determine the genetic diversity of isolates of Mycobacterium tuberculosis (Mtb) from presumed drug-resistant tuberculosis patients from several states of Brazil. The isolates had been submitted to conventional drug suscepti
Externí odkaz:
https://doaj.org/article/1b5e78afb56f4055bbc44b17d2fdfd7c
Autor:
Jaime Toral López, Sandra Gómez Martinez, María del Refugio Rivera Vega, Edgar Hernández-Zamora, Sergio Cuevas Covarrubias, Belem Arely Ibarra Castrejón, Luz María González Huerta
Publikováno v:
Biology, Vol 13, Iss 3, p 173 (2024)
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures with bulging calvaria, hypoplasia, or aplasia of clavicles permitting abnormal opposition of the shoulders; wide public symphysis
Externí odkaz:
https://doaj.org/article/c7952edb2e9a472cada4ff3df044f6ba
Publikováno v:
Insects, Vol 15, Iss 3, p 186 (2024)
The fall armyworm (FAW), Spodoptera frugiperda, is a worldwide agricultural pest that invaded China in 2018, and has developed resistance to multiple insecticides. The evolution of insecticide resistance is facilitated by mutations of target genes re
Externí odkaz:
https://doaj.org/article/14f3d7555c9c4d88959fd09780433bda
Autor:
Frontiers Production Office
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/d70e92ba961e43d784976318fc4025f7
Autor:
Yifan Li, Mao Li, Zhenfu Wang, Fei Yang, Hongfen Wang, Xiujuan Bai, Bo Sun, Siyu Chen, Xusheng Huang
Publikováno v:
Channels, Vol 16, Iss 1, Pp 35-46 (2022)
Myotonia congenita (MC) is a rare genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1), encoding the voltage-gated chloride channel ClC-1 in skeletal muscle. Our study reported the clinical and molecular characteri
Externí odkaz:
https://doaj.org/article/67e152b9b52a4e089c1e783273ae88fe