Results 11 to 20 of about 1,069,421 (301)

Isolation of three novel rat and mouse papillomaviruses and their genomic characterization. [PDF]

, 2012
Despite a growing knowledge about the biological diversity of papillomaviruses (PV), only little is known about non-human PV in general and about PV mice models in particular.
Gottschling, Marc, Nindl, Ingo, Richter, Dania, Schulz, Eric, Stockfleth, Eggert, Ulrich, Rainer G.   +5 more
core   +12 more sources

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
openaire   +7 more sources

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
doaj   +1 more source

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
doaj   +1 more source

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
doaj   +1 more source

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
doaj   +1 more source

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
openaire   +3 more sources

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
doaj   +1 more source

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

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
doaj   +1 more source