Zobrazeno 1 - 10
of 265
pro vyhledávání: '"de novo variants"'
Autor:
Mohammad-Reza Ghasemi, Hossein Sadeghi, Farzad Hashemi-Gorji, Reza Mirfakhraie, Vijay Gupta, Afif Ben-Mahmoud, Saman Bagheri, Katayoon Razjouyan, Shadab Salehpour, Seyed Hassan Tonekaboni, Mehdi Dianatpour, Davood Omrani, Mi-Hyeon Jang, Lawrence C. Layman, Mohammad Miryounesi, Hyung-Goo Kim
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-15 (2024)
Abstract Background and objective Autosomal recessive genetic disorders pose significant health challenges in regions where consanguineous marriages are prevalent. The utilization of exome sequencing as a frequently employed methodology has enabled a
Externí odkaz:
https://doaj.org/article/aeb9e5f8744b4746b6c6e83c686a2bff
Autor:
Agnieszka Pawelak, Artur Polczyk, Ewelina Wolańska, Magdalena Kłaniewska, Mateusz Biela, Aleksander Basiak, Maria Franaszczyk, Małgorzata Rydzanicz, Rafał Płoski, Robert Śmigiel
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
The TRPM3 gene, part of the transient receptor potential (TRP) cation channel family, plays crucial roles in sensory perception and ion transport. Mutations in TRPM3 are linked to a range of neurological and developmental disorders. The c.2509G>A var
Externí odkaz:
https://doaj.org/article/6059acfe002f4b3d813f8533c235eb33
Autor:
Qi Yang, Xunzhao Zhou, Sheng Yi, XiaoLing Li, Qiang Zhang, Shujie Zhang, Li Lin, Shang Yi, Biyan Chen, Zailong Qin, Jingsi Luo
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
IntroductionMutations in the protein WD repeat structural domain 26 (WDR26, MIM 617424) have been identified as the cause of autosomal dominant Skraban-Deardorff syndrome, a rare genetic disorder characterized by intellectual disability (ID), develop
Externí odkaz:
https://doaj.org/article/c20e17db125443eb98c7b4e20ec0d477
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-11 (2024)
Abstract With the development of next-generation sequencing technology, de novo variants (DNVs) with deleterious effects can be identified and investigated for their effects on birth defects such as congenital heart disease (CHD). However, statistica
Externí odkaz:
https://doaj.org/article/484fd5bd40d848f9b50f55cb4edaf9ee
Autor:
Michele Iacomino, Nadia Houerbi, Sara Fortuna, Jennifer Howe, Shan Li, Giovanna Scorrano, Antonella Riva, Kai-Wen Cheng, Mandy Steiman, Iskra Peltekova, Afiqah Yusuf, Simona Baldassari, Serena Tamburro, Paolo Scudieri, Ilaria Musante, Armando Di Ludovico, Sara Guerrisi, Ganna Balagura
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
The human PLAA gene encodes Phospholipase-A2-Activating-Protein (PLAA) involved in trafficking of membrane proteins. Through its PUL domain (PLAP, Ufd3p, and Lub1p), PLAA interacts with p97/VCP modulating synaptic vesicles recycling. Although few fam
Externí odkaz:
https://doaj.org/article/cd756b48f5374befbf921f001de44d20
Autor:
Mona Abdi, Elbay Aliyev, Brett Trost, Muhammad Kohailan, Waleed Aamer, Najeeb Syed, Rulan Shaath, Geethanjali Devadoss Gandhi, Worrawat Engchuan, Jennifer Howe, Bhooma Thiruvahindrapuram, Melissa Geng, Joe Whitney, Amira Syed, Jyothi Lakshmi, Sura Hussein, Najwa Albashir, Amal Hussein, Ilaria Poggiolini, Saba F. Elhag, Sasirekha Palaniswamy, Marios Kambouris, Maria de Fatima Janjua, Mohamed O. El Tahir, Ahsan Nazeer, Durre Shahwar, Muhammad Waqar Azeem, Younes Mokrab, Nazim Abdel Aati, Ammira Akil, Stephen W. Scherer, Madeeha Kamal, Khalid A. Fakhro
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)
Abstract Background Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social and communication skills, restricted interests, and repetitive behaviors. The prevalence of ASD among children in Qatar was recently
Externí odkaz:
https://doaj.org/article/05529e45040b4a24a408cfbaedbd8c6f
Autor:
Tychele N. Turner
Publikováno v:
BMC Bioinformatics, Vol 24, Iss 1, Pp 1-6 (2023)
Abstract Background The study of de novo variation is important for assessing biological characteristics of new variation and for studies related to human phenotypes. Software programs exist to call de novo variants and programs also exist to test th
Externí odkaz:
https://doaj.org/article/13583c15668f4ceb9ffba72f22553a63
Autor:
Qi Yang, Shan Ou, Xunzhao Zhou, Sheng Yi, Li Lin, Shang Yi, Shujie Zhang, Zailong Qin, Jingsi Luo
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background TNRC6B deficiency syndrome, also known as global developmental delay with speech and behavioral abnormalities (MIM 619243), is a rare autosomal dominant genetic disease mainly characterized by facial dysmorphism, developmental del
Externí odkaz:
https://doaj.org/article/e4c3e656efed4846a510f6d0dc4a7461
Autor:
Kuokuo Li, Jifang Xiao, Zhengbao Ling, Tengfei Luo, Jingyu Xiong, Qian Chen, Lijie Dong, Yijing Wang, Xiaomeng Wang, Zhaowei Jiang, Lu Xia, Zhen Yu, Rong Hua, Rui Guo, Dongdong Tang, Mingrong Lv, Aojie Lian, Bin Li, GuiHu Zhao, Xiaojin He, Kun Xia, Yunxia Cao, Jinchen Li
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104928- (2024)
Summary: Background: Genomic variants outside of the canonical splicing site (±2) may generate abnormal mRNA splicing, which are defined as non-canonical splicing variants (NCSVs). However, the clinical interpretation of NCSVs in neurodevelopmental
Externí odkaz:
https://doaj.org/article/7a015e54ce934fb6a3f4f6af2d016784
Publikováno v:
Jichu yixue yu linchuang, Vol 43, Iss 2, Pp 259-264 (2023)
Objective To analyze the clinical features and to identify the pathogenic variants in three Chinese families with dyschromatosis symmetrica hereditaria (DSH). Methods Clinical information and peripheral blood samples from three trio families with DSH
Externí odkaz:
https://doaj.org/article/5a07d37eb22b4be09970508a6702e877