Výsledky vyhledávání - "frame-shift mutation"

Akademický článek

Identification of a De Novoc.1000delA ANK1 mutation associated to hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice-case reports and review of the literature

Autor: Lichun Xie, Zhihao Xing, Changgang Li, Si-xi Liu, Fei-qiu Wen

Publikováno v: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-6 (2021)

Abstract Background To strengthen the understanding of Hereditary Spherocytosis (HS) and determine the disease-causing mutation present with neonatal jaundice. HS is a hemolytic condition resulting from various erythrocyte membrane defects. Many diff

Externí odkaz: https://doaj.org/article/ec3170ff9f4d4b299cdd0221b35a85d5

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Akademický článek

A Novel Frame-Shift Mutation in SCNN1B Identified in a Chinese Family Characterized by Early-Onset Hypertension

Autor: Yi-Ting Lu, Xin-Chang Liu, Ze-Ming Zhou, Di Zhang, Lin Sun, Ying Zhang, Peng Fan, Lin Zhang, Ya-Xin Liu, Fang Luo, Xian-Liang Zhou

Publikováno v: Frontiers in Cardiovascular Medicine, Vol 9 (2022)

BackgroundLiddle syndrome is a form of monogenic hypertension caused by mutations in the three homologous subunits of the epithelial sodium channels (ENaCs), α, β, and γ. It is characterized by early-onset refractory hypertension, hypokalemia, low

Externí odkaz: https://doaj.org/article/59143b1187f544ca81a2d52236f202aa

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Akademický článek

Characterization and map-based cloning of miniature2-m1, a gene controlling kernel size in maize

Autor: Hai-ying GUAN, Yong-bin DONG, Shou-ping LU, Tie-shan LIU, Chun-mei HE, Chun-xiao LIU, Qiang LIU, Rui DONG, Juan WANG, Yu-ling LI, Shi-jun QI, Li-ming WANG

Publikováno v: Journal of Integrative Agriculture, Vol 19, Iss 8, Pp 1961-1973 (2020)

Kernel development plays an important role in determining kernel size in maize. Here we present the cloning and characterization of a maize gene, nitrate transporter1.5 (NRT1.5), which controls small kernel phenotype by playing an important role in k

Externí odkaz: https://doaj.org/article/03aaf5b0b5cd495d9d98e67786c06f6e

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Akademický článek

Case Report: A Novel Point Mutation of SOX3 in a Subject With Growth Hormone Deficiency, Hypogonadotrophic Hypogonadism, and Borderline Intellectual Disability

Autor: Jing Li, Yuxia Zhong, Tao Guo, Yerong Yu, Jianwei Li

Publikováno v: Frontiers in Endocrinology, Vol 13 (2022)

SOX3 is critical for the development of the pituitary, brain, and face, and SOX3 mutations may lead to hypopituitarism, intellectual disability, and craniofacial abnormalities. Common SOX3 mutations are duplications and deletions of the whole or part

Externí odkaz: https://doaj.org/article/e8382e4f77a54e2ba6bb925c3d618259

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Akademický článek

Identification of NF1 Frameshift Variants in Two Chinese Families With Neurofibromatosis Type 1 and Early-Onset Hypertension

Autor: Yi-Ting Lu, Di Zhang, Xin-Chang Liu, Qiong-Yu Zhang, Xue-Qi Dong, Peng Fan, Yan Xiao, Xian-Liang Zhou

Publikováno v: Frontiers in Pediatrics, Vol 9 (2021)

Background: Neurofibromatosis type 1 (NF-1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. It is characterized by multiple café-au-lait macules, cutaneous neurofibromas, optic glioma, Lisch nodules, and axillary and ing

Externí odkaz: https://doaj.org/article/c5a686a9b63345ff8011545ab9b63ed6

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Akademický článek

A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature

Autor: Sadaf Noavar, Samira Behroozi, Taraneh Tatarcheh, Farshid Parvini, Majid Foroutan, Hossein Fahimi

Publikováno v: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)

Abstract Background The SLC29A3 gene, encoding a nucleoside transporter protein, is found in intracellular membranes. Based on the literatures, mutations in this gene cause a wide range of clinical manifestations including H syndrome, pigmented hyper

Externí odkaz: https://doaj.org/article/d91c0495f34f4b1a948aa093a236fffd

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Akademický článek

A novel NF1 frame-shift mutation c.703_704delTA in a Chinese pedigree with neurofibromatosis type 1

Autor: Jun Chen, Bo Guo, Min Ren, Hong Lin, Xin Zhang, Si-Yi Chen, Xiao-Tian Yu, Zhu-Ping Xu

Publikováno v: International Journal of Ophthalmology, Vol 11, Iss 9, Pp 1562-1565 (2018)

We analyzed the clinical features and NF1 gene mutation in a Chinese pedigree of neurofibromatosis type 1 (NF1). Three members of this family were NF1 patients presenting with different clinical phenotypes and the others were asymptomatic. Exons of N

Externí odkaz: https://doaj.org/article/5f63cb11fde74968a1c147f791e7a315

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Akademický článek

Identification of Frame-Shift Intermediate Mutant Cells

Autor: Gasche, Christoph, Chang, Christina L., Natarajan, Loki, Goel, Ajay, Rhees, Jennifer, Young, Dennis J., Arnold, Christian N., Boland, C. Richard

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2003 Feb . 100(4), 1914-1919.

Externí odkaz: https://www.jstor.org/stable/3138459

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Akademický článek

A New PKD1 Mutation Discovered in a Chinese Family with Autosomal Polycystic Kidney Disease

Autor: Zhendi Wang, Yang Wang, Jing Xiong

Publikováno v: Kidney & Blood Pressure Research, Vol 39, Iss 1, Pp 1-8 (2014)

Background/Aims: Autosomal-dominant polycystic kidney disease (ADPKD), a heterogeneous genetic disorder characterized by massive kidney enlargement and progressive chronic kidney disease, is due to abnormal proliferation of renal tubular epithelium.

Externí odkaz: https://doaj.org/article/92a81d25f0ac429eadde53f80e3c4fa6

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