Results 11 to 20 of about 427,618 (269)

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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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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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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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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SLC35A2-CDG: Novel variant and review

Molecular Genetics and Metabolism Reports, 2021
SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a predominant feature.
Quelhas, Dulce, Correia, Joana, Jaeken, Jaak, Azevedo, Luisa, Lopes-Marques, Monica, Bandeira, Anabela, Keldermans, Liesbeth, Matthijs, Gert, Sturiale, Luisa, Martins, Esmeralda   +9 more
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Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes

Journal of Dental Research, 2023
Amelogenesis imperfecta (AI) comprises a group of rare, inherited disorders with abnormal enamel formation. Ameloblastin (AMBN), the second most abundant enamel matrix protein (EMP), plays a critical role in amelogenesis. Pathogenic biallelic loss-of-function AMBN variants are known to cause recessive hypoplastic AI. A report of a family with dominant
Hany, U., Watson, C.M., Liu, L., Nikolopoulos, G., Smith, C.E.L., Poulter, J.A., Brown, C.J., Patel, A., Rodd, H.D., Balmer, R., Harfoush, A., Al-Jawad, M., Inglehearn, C.F., Mighell, A.J.   +13 more
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Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab

Molecular Genetics & Genomic Medicine, 2023
Background Variants in COL7A1 cause an extremely rare and clinically heterogeneous syndrome known as dystrophic epidermolysis bullosa pruriginosa (DEB‐Pr).
Caichou Zhao, Shuanglin Cao, Xinghua Gao, Xuegang Xu, Lixiong Gu   +4 more
doaj   +1 more source

Novel Homozygous PADI6 Variants in Infertile Females with Early Embryonic Arrest

Frontiers in Cell and Developmental Biology, 2022
Early embryonic arrest denotes premature termination of development in preimplantation embryos, which is one of the major phenotypes of recurrent assisted reproduction failure.
Yao Xu, Rongxiang Wang, Zhi Pang, Zhiyun Wei, Lihua Sun, Sa Li, Guanghua Wang, Yu Liu, Yiwen Zhou, Hongjuan Ye, Liping Jin, Songguo Xue   +11 more
doaj   +1 more source

Case Report: Discovery a Novel SARS-CoV-2 Variant in a Six-Months Long-Term Swab Positive Female Suffering From Non-Hodgkin Lymphoma

Frontiers in Oncology, 2021
BackgroundWe report the case of a woman with non-Hodgkin lymphoma who remained positive on the molecular assay for SARS-CoV-2 for six months: she has never experienced a severe form of COVID-19 although in absence of seroconversion.MethodsThe whole SARS ...
Ettore Capoluongo, Ettore Capoluongo, Carmela Nardelli, Carmela Nardelli, Carmela Nardelli, Maria Valeria Esposito, Antonio Riccardo Buonomo, Monica Gelzo, Monica Gelzo, Biagio Pinchera, Emanuela Zappulo, Giulio Viceconte, Giuseppe Portella, Mario Setaro, Ivan Gentile, Giuseppe Castaldo, Giuseppe Castaldo   +16 more
doaj   +1 more source