Article
Medicine, General & Internal
Hai-Long Dai, Duolao Wang, Xue-Feng Guang, Wei-Hua Zhang
Summary: Kartagener's syndrome is a genetic disorder characterized by sinusitis, bronchiectasis, and situs in versus. Genetic testing is important for diagnosis. We report the case of a Chinese patient with Kartagener's syndrome who showed significant improvement in symptoms with treatment. Whole-exome sequencing revealed a novel mutation in the CCDC40 gene.
FRONTIERS IN MEDICINE
(2022)
Letter
Clinical Neurology
Keitaro Okada, Yukiko Hata, Shojiro Ichimata, Koji Yoshida, Yuko Oku, Takashi Asahi, Naoki Nishida
Summary: The study revealed a diagnosis of long-standing Parkinson's disease in the autopsy case, along with a novel TUBA4A mutation and PD-associated pure nigropathy. Additionally, minimal but significant tau pathology possibly related to deep brain stimulation was observed.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2021)
Article
Medicine, General & Internal
James Wren, Matthew Hudnall, Minh Pham, Anne L. Darves-Bornoz, Joshua A. Halpern, Nelson E. Bennett, Robert E. Brannigan, Matthias D. Hofer
Summary: This study aimed to compare the rates of successful sperm retrieval in patients with a prior history of cryptozoospermia and patients with non-obstructive azoospermia (NOA) using microdissection testicular sperm extraction (mTESE). The results showed that patients with cryptozoospermia had a significantly higher chance of successful mTESE compared to patients with NOA. Factors such as pathology and hormone levels were associated with the success of mTESE.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Medicine, General & Internal
Changhoon Jeong, Myungshin Kim, Jisook Yim, Il-Jung Park, Jiwon Lee, Jaeyoung Lee
Summary: Osteopathia striata with cranial sclerosis is characterized by linear striations in the metaphysis of long bones and pelvis with cranial sclerosis. It is caused by mutations in the WTX gene and can lead to fetal or neonatal lethality in affected males. A novel nonsense mutation was identified in a family diagnosed with osteopathia striata with cranial sclerosis, highlighting the importance of genetic analysis in understanding the disease.
Article
Genetics & Heredity
Lei Xi, Shanshan Lv, Hao Zhang, Zhen-Lin Zhang
Summary: This study reported a patient with Osteogenesis Imperfecta (OI) caused by BMP1 gene mutations, revealing two novel mutations and followed up for 4 years. The patient showed a significant increase in bone density and no new fractures occurred after receiving oral medication treatment.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Dermatology
R. Mo, M. Lin, M. Lee, W. Yan, H. Wang, Z. Lin
Summary: The study identified two novel homozygous mutations in the KRT1 gene in Chinese patients with EPPK and knuckle pads. The upregulation of Keratin 2 was found to be a possible compensatory effect in sparing non-acral skin.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2022)
Article
Genetics & Heredity
Shaozhi Zhao, Chen Miao, Xiaolei Wang, Yitong Lu, Hongwei Liu, Xinwen Zhang
Summary: This study explores the clinical characteristics and genetic basis of a patient with unilateral ptosis and unilateral hearing impairment through pedigree analysis. Sequencing analysis identified a novel heterozygous nonsense variant in the ZNF462 gene in the patient and his father, providing further evidence for the genetic etiology of the condition.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Susanne Kohl, Britta Baumann, Francesca Dassie, Anja K. Mayer, Maria Solaki, Peggy Reuter, Laura Kuehlewein, Bernd Wissinger, Pietro Maffei
Summary: This study identified a homozygous variant in the CNGA3 gene in a patient with ACHM, with the variant being detected in a heterozygous state in the father but not in the mother. The homozygosity of the CNGA3 variant in the patient was found to be due to partial or complete paternal uniparental isodisomy. In addition to the ACHM phenotype, the patient was clinically unsuspicious and healthy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, Research & Experimental
Sara H. Osum, Eunice I. Oribamise, Stanislas M. A. S. Corbiere, Mandy Taisto, Tyler Jubenville, Alex Coutts, Mark N. Kirstein, James Fisher, Christopher Moertel, Ming Du, David Bedwell, David A. Largaespada, Adrienne L. Watson
Summary: Neurofibromatosis type 1 (NF1) is caused by germline mutations in the tumor-suppressor gene NF1, leading to an increased risk of nervous system tumors. In this study, a minipig model of NF1 carrying a premature termination codon (PTC) was used to investigate the potential of nonsense suppression in restoring expression of the NF1-encoded protein neurofibromin. The results showed that nonsense suppression did not significantly increase neurofibromin in primary NF1-'- Schwann cells, but it reduced phosphorylated ERK.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2023)
Article
Medical Laboratory Technology
Shuang Chen, Qi Xi, Xinyue Zhang, Yuting Jiang, Leilei Li, Ruizhi Liu, Hongguo Zhang
Summary: This study presented a case of cryptozoospermia in a male patient with a Y;14 chromosomal translocation. Clinical diagnostic techniques including semen analysis, hormone measurements, cytogenetic analysis, fluorescence in situ hybridization (FISH), and high-throughput multiplex ligation-dependent probe amplification semiconductor sequencing were used. Intracytoplasmic sperm injection treatment combined with preimplantation genetic diagnosis was chosen to achieve a successful pregnancy.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Endocrinology & Metabolism
Shenghui Ge, Mengge Yang, Wenfeng Gong, Wenzhe Chen, Jianjun Dong, Lin Liao
Summary: Maturity-onset diabetes of the young 5 (MODY5) is a rare diabetes syndrome of young adults, characterized by diabetic ketosis, multiple renal cysts, and hypokalemia. Mutations in the HNF1B gene are associated with MODY5.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Oncology
Zhenxing Liu, Kaikai Guo, Xuebin Hu, Xianqin Zhang
Summary: In this study, a novel heterozygous mutation (c.1159C>T, p.Q387X) in the KRIT1 gene was identified in a four-generation family with cerebral cavernous malformation (CCM). This mutation resulted in premature termination of the KRIT1 protein, providing further evidence that KRIT1 mutations are a cause of CCM. These findings are important for the treatment and genetic diagnosis of CCM.
FRONTIERS IN ONCOLOGY
(2023)
Article
Medicine, General & Internal
Shu Liu, Yue Ren, Di Wang, Dan Xiao, Zhuang Li, Dan Xu, Yan Sun, Zhuoshi Wang, Jijing Pang
Summary: X-linked retinoschisis is more common in male children, presenting with early onset visual impairment or vision loss. We report a long-term observation of a female patient with familial foveal retinoschisis caused by CRB1 gene mutation. Her initial symptoms were similar to X-linked retinoschisis, but the splitting extent at the retinal fovea gradually decreased over time.
FRONTIERS IN MEDICINE
(2023)
Article
Medical Laboratory Technology
Arman Zhao, Jie Shen, Yueyue Ding, Mao Sheng, Mengying Zuo, Haitao Lv, Jian Wang, Yiping Shen, Hongying Wang, Ling Sun
Summary: This study identified a patient with a rare combination of one inherited plus one de novo variant in the PPA2 gene, highlighting the importance of long-read sequencing for diagnostic clarification. Genetic diagnosis can assist in patient management and counseling.
CLINICA CHIMICA ACTA
(2021)
Article
Biochemistry & Molecular Biology
Julie Carrard, Fiona Ratajczak, Josephine Elsens, Catherine Leroy, Rebekah Kong, Lucie Geoffroy, Arnaud Comte, Guy Fournet, Benoit Joseph, Xiubin Li, Sylvie Moebs-Sanchez, Fabrice Lejeune
Summary: The study has built a new screening system and identified two new molecules that can effectively inhibit nonsense-mediated mRNA decay (NMD). These molecules show no cellular toxicity at tested concentrations and have been validated in a lung cancer model with a nonsense mutation.
Article
Obstetrics & Gynecology
Yan-Wei Sha, Xiong Wang, Xiaohui Xu, Zhi-Ying Su, Yuanqing Cui, Li-Bin Mei, Xian-Jing Huang, Jie Chen, Xue-Mei He, Zhi-Yong Ji, Hongchu Bao, Xiaoyu Yang, Ping Li, Lin Li
REPRODUCTIVE SCIENCES
(2019)
Article
Andrology
L. Li, Y. -W. Sha, X. Xu, L. -B. Mei, P. -P. Qiu, Z. -Y. Ji, S. -B. Lin, Z. -Y. Su, C. Wang, C. Yin, P. Li
Letter
Andrology
Yan-Wei Sha, Lu Ding, Zhi-Yong Ji, Yun-Sheng Ge, Hui Kong, Qing Zhang, Yu-Lin Zhou, Ping Li
ASIAN JOURNAL OF ANDROLOGY
(2018)
Article
Genetics & Heredity
Y. -W. Sha, Y. -K. Sha, Z. -Y. Ji, L. -B. Mei, L. Ding, Q. Zhang, P. -P. Qiu, S. -B. Lin, X. Wang, P. Li, X. Xu, L. Li
Article
Genetics & Heredity
Yan-Wei Sha, Xiong Wang, Zhi-Ying Su, Chengrong Wang, Zhi-Yong Ji, Li-Bin Mei, Ling Zhang, Bing-Bing Deng, Xian-Jing Huang, Wei Yan, Jie Chen, Ping Li, Yuan-qing Cui, Qing-Lan Qu, Chenghong Yin, Xue-Mei He
Article
Genetics & Heredity
Yan-Wei Sha, Li-Bin Mei, Zhi-Yong Ji, Lu Ding, Yunsheng Ge, Qiong Wu, Hui Kong, Zhi-Ying Su, Ping Li
Article
Genetics & Heredity
Yan-Wei Sha, Xiaohui Xu, Zhi-Yong Ji, Shao-Bin Lin, Xu Wang, Ping-Ping Qiu, Yulin Zhou, Li-Bin Mei, Zhi-Ying Su, Lin Li, Ping Li
Article
Genetics & Heredity
Lin Li, Yan-Wei Sha, Zhi-Ying Su, Li-Bin Mei, Zhi-Yong Ji, Qing Zhang, Shao-Bin Lin, Xu Wang, Ping-Ping Qiu, Ping Li, Chenghong Yin
Article
Andrology
Bao-Fang Jin, Zhi-Yong Ji, Zhi-Ying Su, Li-Bin Mei, Xian-Jing Huang, Shao-Bin Lin, Ping Li, Yan-Wei Sha
SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE
(2018)
Article
Andrology
Yan-Wei Sha, Xiong Wang, Zhi-Ying Su, Li-Bin Mei, Zhi-Yong Ji, Hongchu Bao, Ping Li
Letter
Andrology
Yan-Wei Sha, Yan-Kun Sha, Lu Ding, Shao-Bin Lin, Zhi-Yong Ji, Xu Wang, Yue-Qiang Song, Ping Li
ASIAN JOURNAL OF ANDROLOGY
(2017)
Review
Andrology
Zhi-Yong Ji, Yan-Wei Sha, Lu Ding, Ping Li
ASIAN JOURNAL OF ANDROLOGY
(2017)
Letter
Andrology
Yan-Wei Sha, Qing Zhang, Lu Ding, Ping Li
ASIAN JOURNAL OF ANDROLOGY
(2017)
Article
Genetics & Heredity
X. Xu, Y. -W. Sha, L. -B. Mei, Z. -Y. Ji, P. -p. Qiu, H. Ji, P. Li, T. Wang, L. Li
