Clinical relevance of protein-truncating variants of germline DNA repair genes in prostate cancer

Authors: Yu-Hsuan Joni Shao, Cai-Sian Liao, Yu-Ching Hsu, Yu-Chiao Chiu, Tsai-Jung Lu, Yen-Chuan Ou, Tzu-Hung Hsiao

Source: BMC Cancer, Vol 24, Iss 1, Pp 1-9 (2024)

Subject Terms: Protein-truncating variant, Germline mutation, DNA repair gene, Prostate cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2407

Access URL: https://doaj.org/article/56510ca57fa740e5ab5ba6b5094cd84b

Update on X-linked Hypophosphatemia

Contributors: Hasegawa, Yukihiro, Fukumoto, Seiji

Subject Terms: phosphate, fibroblast growth factor 23, osteocytes, rickets, osteomalacia, X-linked hypophosphatemia, enthesopathy, secondary hyperparathyroidism, tertiary hyperparathyroidism, chronic kidney disease, oral disease, quality of life, burosumab, transition, team management, transfer, deformity correction, mechanical axis, X-linked hypophosphatemic rickets, phosphate-regulating endopeptidase homolog X-linked, genotype–phenotype correlation, multiplex ligation-dependent probe amplification, nonsense-mediated decay, cryptic splice site, mosaicism, zinc-binding site, truncating variant, phosphorus, active form of Vitamin D, renal calcification, fibroblast growth factor 23 (FGF23), FGF23, hypophosphatemic rickets, XLH, dentin dysplasia, pulp infection, periapical abscess, medical and dental collaboration, matrix vesicle, mineralization, bone, endochondral ossification, osteoblast, X-linked hypophosphatemic rickets/osteomalacia, conventional treatment, adherence, PHEX, QOL, lower leg deformities, growth impairment, TmP/GFR, Rickets Severity Score, phosphate transporter, SLC34, Tmem174, kidney, Medicine and Nursing

File Description: application/octet-stream

Access URL: https://directory.doabooks.org/handle/20.500.12854/137459
https://mdpi.com/books/pdfview/book/8614

Protein truncating variants in mitochondrial-related nuclear genes and the risk of chronic liver disease

Authors: Huangbo Yuan, Zhenqiu Liu, Mingyang Chen, Qiaoyi Xu, Yanfeng Jiang, Tiejun Zhang, Chen Suo, Xingdong Chen

Source: BMC Medicine, Vol 22, Iss 1, Pp 1-13 (2024)

Subject Terms: Protein truncating variant, Mitochondrial dysfunction, Liver-related biomarkers, Chronic liver disease, Genetic susceptibility, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1741-7015

Access URL: https://doaj.org/article/20c95263f7114e39958b506f7e180117

Spectrum and genotype–phenotype relationship of ALPK3 variants in Chinese patients with hypertrophic cardiomyopathy

Authors: Wang, Jing ^{a, b, 1}, Wang, Fang ^{c, 1}, Wu, Guixin ^{d, e}, Lu, Minjie ^d, Zhang, Channa ^d, Song, Lei ^{d, e, f}, Shao, Yibing ^b, Wang, Jizheng ^{d, ⁎⁎}, Liu, Fusong ^{c, ⁎⁎⁎}, Zhang, Mei ^{a, ⁎}

Source: In Heliyon 30 June 2024 10(12)

A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature

Authors: Hongyun Zhang, Siyuan Linpeng, Yanling Teng, Can Peng, Desheng Liang, Zhuo Li, Lingqian Wu

Source: Frontiers in Pediatrics, Vol 11 (2023)

Subject Terms: transient isolated bilateral mild ventriculomegaly, POU3F3, whole-exome sequencing, snijders blok-Fisher syndrome, truncating variant, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1177137/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/3c14ce0c4c094393b55590c00673467e

Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients

Authors: Anwar Baban, Marianna Cicenia, Monia Magliozzi, Giovanni Parlapiano, Marco Cirillo, Giulia Pascolini, Fabiana Fattori, Maria Gnazzo, Pasqualina Bruno, Lorenzo De Luca, Luca Di Chiara, Paola Francalanci, Bjarne Udd, Aurelio Secinaro, Antonio Amodeo, Enrico Silvio Bertini, Marco Savarese, Fabrizio Drago, Antonio Novelli

Source: Frontiers in Cardiovascular Medicine, Vol 10 (2023)

Subject Terms: titinopathy, titin (TTN), truncating variant, dilated cardiomyopathy, neuromuscular disease, heart failure, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcvm.2023.1210378/full; https://doaj.org/toc/2297-055X

Access URL: https://doaj.org/article/35e0517acfa14006afaeeb4b26218875

Enrichment of titin-truncating variants in exon 327 in dilated cardiomyopathy and its relevance to reduced nonsense-mediated mRNA decay efficiency

Authors: Young-gon Kim, Changhee Ha, Sunghwan Shin, Jong-ho Park, Ja-Hyun Jang, Jong-Won Kim

Source: Frontiers in Genetics, Vol 13 (2023)

Subject Terms: TTN, truncating variant, exon 327, dilated cardiomyopathy, nonsense-mediated mRNA decay, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1087359/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/0f43fd56d58e4f5c9465c23cacec27aa

Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses

Authors: Ye Wang, Caixia Zhu, Liu Du, Qiaoer Li, Mei-Fang Lin, Claude Férec, David N. Cooper, Jian-Min Chen, Yi Zhou

Source: Frontiers in Genetics, Vol 10 (2019)

Subject Terms: LMOD3, nemaline myopathy, polyhydramnios, prenatal diagnosis, truncating variant, whole exome sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.00835/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/e2d42383a3474df1bcff4b1f213c670d

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