Results 1 to 10 of about 1,069,421 (301)

A case report: identifying a novel variant in ELOC(TCEB1)-mutant renal cell carcinoma [PDF]

Frontiers in Oncology
ELOC(TCEB1)-mutant renal cell carcinoma [ELOC(TCEB1)-RCC] is a newly recognized type of RCC characterized by clear cell morphology and ELOC(TCEB1) gene mutation.
Hai-Peng Cheng, Hai-Peng Cheng, Na-Mei Li, Na-Mei Li, Ke-Xin Zeng, Peng Zhou, Peng Zhou, Xiao-Hong Li, Xiao-Hong Li   +8 more
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COG6‐CDG: Novel variants and novel malformation [PDF]

Birth Defects Research, 2022
AbstractBackgroundDeficiency of Conserved Oligomeric Golgi (COG) subunits (COG1–8) is characterized by both N‐ and O‐protein glycosylation defects associated with destabilization and mislocalization of Golgi glycosylation machinery components (COG‐CDG).
Cirnigliaro, Lara, Bianchi, Paolo, Sturiale, Luisa, Garozzo, Domenico, Mangili, Giovanna, Keldermans, Liesbeth, Rizzo, Renata, Matthijs, Gert, Fiumara, Agata, Jaeken, Jaak, Barone, Rita   +10 more
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Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene

Journal of Biochemical and Clinical Genetics, 2023
Background: Glycosylphosphatidylinositol (GPI) is a glycolipid containing phosphatidylinositol related to the protein surfaces by covalent attachment.
Anam Nayab, Shagufta Andleeb, Shah Zeb, Hafiza Yasmin Manzoor, Zamrud Zehri, Arif Mahmood, Hammal Khan, Muhammad Umair, Ahmed Waqas   +8 more
doaj   +1 more source

MAN1B1-CDG: novel patients and novel variant

Journal of Pediatric Endocrinology and Metabolism, 2021
Abstract Objectives Congenital disorders of glycosylation (CDGs) are a group of genetic disorders due to hypoglycosylation of proteins and lipids. A type I pattern is associated with defects in glycan assembly and transfer (CDG-I; cytosol; and endoplasmic reticulum defects), a type II pattern is seen ...
Kasapkara, Cigdem Seher, Olgac, Asburce, Kilic, Mustafa, Keldermans, Liesbeth, Matthijs, Gert, Jaeken, Jaak   +5 more
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DEEPGENTM—A Novel Variant Calling Assay for Low Frequency Variants [PDF]

Genes, 2021
Detection of genetic variants in clinically relevant genomic hot-spot regions has become a promising application of next-generation sequencing technology in precision oncology. Effective personalized diagnostics requires the detection of variants with often very low frequencies. This can be achieved by targeted, short-read sequencing that provides high
Bernd Timo Hermann, Sebastian Pfeil, Nicole Groenke, Samuel Schaible, Robert Kunze, Frédéric Ris, Monika Elisabeth Hagen, Johannes Bhakdi   +7 more
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Identification of novel compound heterozygous variants in the DNAH1 gene of a Chinese family with left-right asymmetry disorder

Frontiers in Molecular Biosciences, 2023
Most internal organs in humans and other vertebrates exhibit striking left-right asymmetry in position and structure. Variation of normal organ positioning results in left-right asymmetry disorders and presents as internal organ reversal or randomization.
Lamei Yuan, Lamei Yuan, Lamei Yuan, Lamei Yuan, Xuehui Yu, Xuehui Yu, Heng Xiao, Heng Xiao, Sheng Deng, Hong Xia, Hongbo Xu, Yan Yang, Hao Deng, Hao Deng, Hao Deng, Hao Deng   +15 more
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Nonsyndromic craniosynostosis: novel coding variants [PDF]

Pediatric Research, 2019
Craniosynostosis (CS), the premature fusion of one or more neurocranial sutures, is associated with approximately 200 syndromes; however, about 65-85% of patients present with no additional major birth defects.We conducted targeted next-generation sequencing of 60 known syndromic and other candidate genes in patients with sagittal nonsyndromic CS (sNCS,
Sewda A, White SR, Erazo M, Hao K, García-Fructuoso G, Fernández-Rodriguez I, Heuzé Y, Richtsmeier JT, Romitti PA, Reva B, Jabs EW, Peter I   +11 more
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The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region

JCRPE, 2021
Objective:The aim of this study was to investigate the molecular basis of maturity-onset diabetes of the young (MODY) by targeted-gene sequencing of 20 genes related to monogenic diabetes, estimate the frequency and describe the clinical characteristics ...
Sinem Yalçıntepe, Fatma Özgüç Çömlek, Hakan Gürkan, Selma Demir, Emine İkbal Atlı, Engin Atlı, Damla Eker, Filiz Tütüncüler Kökenli   +7 more
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Identification of five novel SCN1A variants

Frontiers in Behavioral Neuroscience, 2023
BackgroundEpilepsy is characterized by recurrent unprovoked seizures. Mutations in the voltage-gated sodium channel alpha subunit 1 (SCN1A) gene are the main monogenic cause of epilepsy. Type and location of variants make a huge difference in the severity of SCN1A disorder, ranging from the mild phenotype (genetic epilepsy with febrile seizures plus ...
Baitao Zeng, Baitao Zeng, Haoyi Zhang, Qing Lu, Qing Lu, Qingzi Fu, Qingzi Fu, Yang Yan, Yang Yan, Wan Lu, Wan Lu, Pengpeng Ma, Pengpeng Ma, Chuanxin Feng, Chuanxin Feng, Jiawei Qin, Jiawei Qin, Laipeng Luo, Laipeng Luo, Bicheng Yang, Bicheng Yang, Yongyi Zou, Yongyi Zou, Yanqiu Liu, Yanqiu Liu   +24 more
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A Rare Case of Familial Schwannomatosis Showing Intrafamilial Variability with Identification of a Shared Novel Germline SMARCB1 Mutation

Medicina, 2022
Schwannomatosis is characterized by the presence of multiple schwannomas without landmarks of NF2. It is considered the rarest form of neurofibromatosis (NF).
Jun Hyun Lee, Jae Seok Jeong, Kum Ju Chae, Yeon-Hee Han, So Ri Kim, Yong Chul Lee   +5 more
doaj   +1 more source