Results 1 to 10 of about 427,449 (100)

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
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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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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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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
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Case report: 17α− hydroxylase deficiency due to a hotspot variant and a novel compound heterozygous variant in the CYP17A1 gene of five Chinese patients

Frontiers in Pediatrics, 2022
17α-Hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia caused by mutations in the CYP17A1 gene. It is characterized by impaired adrenal and gonad steroid biosynthesis. Affected patients present with hypertension, hypokalemia,
Jinying Li, Qiang Zhang, Jing Chen, Xingjiao Fu, Jingpin Yang, Lijun Liu   +5 more
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Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis

Molecular Genetics & Genomic Medicine, 2021
Background Osteopetrosis is characterized by increased bone density and bone marrow cavity stenosis due to a decrease in the number of osteoclasts or the dysfunction of their differentiation and absorption properties usually caused by biallelic variants ...
Huanhuan Liang, Niu Li, Ru‐en Yao, Tingting Yu, Lixia Ding, Jing Chen, Jian Wang   +6 more
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Novel MEIOB variants cause primary ovarian insufficiency and non-obstructive azoospermia

Frontiers in Genetics, 2022
Background: Infertility is a global health concern. MEIOB has been found to be associated with premature ovarian insufficiency (POI) and non-obstructive azoospermia (NOA), but its variants have not been reported in Chinese patients. The aim of this study
Yurong Wang, Ling Liu, Chen Tan, Guiquan Meng, Lanlan Meng, Lanlan Meng, Lanlan Meng, Lanlan Meng, Hongchuan Nie, Juan Du, Juan Du, Juan Du, Guang-Xiu Lu, Guang-Xiu Lu, Guang-Xiu Lu, Guang-Xiu Lu, Ge Lin, Ge Lin, Ge Lin, Ge Lin, Wen-Bin He, Wen-Bin He, Wen-Bin He, Wen-Bin He, Wen-Bin He, Yue-Qiu Tan, Yue-Qiu Tan, Yue-Qiu Tan, Yue-Qiu Tan, Yue-Qiu Tan   +29 more
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Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family

Frontiers in Pediatrics, 2022
BackgroundThe serine active site-containing protein 1 (SERAC1) biallelic variant usually causes MEGDEL syndrome, clinically characterized by increased excretion of 3-methylglutaconic in the urine, muscle hypotonia, sensorineural deafness, and Leigh-like ...
Dandan Yan, Dandan Yan, Shaopei Chen, Fengying Cai, Jianbo Shu, Jianbo Shu, Xiufang Zhi, Xiufang Zhi, Jie Zheng, Jie Zheng, Chunhua Zhang, Dong Li, Chunquan Cai, Chunquan Cai   +13 more
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Pathogenicity and molecular characterization of infectious bursal disease virus in China

Poultry Science, 2022
: Infectious bursal disease virus (IBDV) caused an acute and highly contagious infectious disease, resulting in considerable economic losses in the world poultry industry.
Jiamin Lian, Zhanxin Wang, Zhouyi Xu, Yanling Pang, Mei Leng, Shuang Tang, Xinheng Zhang, Jianping Qin, Feng Chen, Wencheng Lin   +9 more
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Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period

Iranian Journal of Public Health, 2019
Background: Diagnosis of hereditary hearing loss (HHL) as a heterogeneous disorder is very important espe-cially in countries with high rates of consanguinity where the autosomal recessive pattern of inheritance is preva-lent.
Niloofar BAZAZZADEGAN, Raheleh VAZEHAN, Mahsa FADAEE, Zohreh FATTAHI, Ayda ABOLHASSANI, Elham PARSIMEHR, Zahra KALHOR, Mehrshid FARAJI ZONOOZ, Fatemeh AHANGARI, Shima DEHDAHSI, Farshide SAMIEE, Payman JAMALI, Haleh HABIBI, Younes NOURIZADEH, Shokouh MAHDAVI, Maryam BEHESHTIAN, Ariana KARIMINEJAD, Richard JH SMITH, Hossein NAJMABADI   +18 more
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