Oct 2026· Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics· Vol 43 10, pp.
755-763
· 0 citations
Medicine
TL;DR
This study has diagnosed a case of SCOS due to compound heterozygous variants of the MOV10L1 gene, which also enriched its mutational spectrum.
It is demonstrated that the identified DMRTB1 variant is closely associated with the pathogenesis of NOA, thereby providing valuable genetic evidence for the diagnosis of NOA.
Yu-Hang Li, Shuai Lu, Xun Wang et al.· Clinical Genetics· 0 citations
BACKGROUND
Male infertility is a complex, multifactorial disorder that affects ∼7% of men worldwide. Variants in DNAH and CFAP genes are well-established causes of asthenoteratozoospermia, but the contribution of TTC-family genes (TTC12, TTC21A, TTC29) to sperm dysfunction and ICSI outcome remains poorly documented....
Hui Yu, D. Tang, Jia-Jun Fang et al.· Andrology· 0 citations
The patient had developed unsteady gait 6 months before without clear cause, manifesting as a feeling of heaviness in the head and lightness in the feet, a sensation of walking on cotton wool when standing or walking, and the detection of the novel variant has enriched the mutational spectrum of the JAM2 gene.
Qian Ma, Wen-Jun Shao, Yi-Wei Wang et al.· Zhonghua yi xue yi chuan xue...· 0 citations
The association with granular cell tumours highlights the clinical importance of long-term surveillance of neural crest-derived neoplasms in PTPN11 variant carriers and broadens the understanding of the diverse phenotypic outcomes associated with PTPN11 variants.
Piao-Ping Zhao, Qin Zeng, Q. Cao et al.· EJD. European journal of der...· 0 citations
Background. The filaggrin protein, encoded by the FLG gene, is key to maintaining a healthy skin barrier and normal immune system function. Filaggrin loss-of-function mutations are the primary cause of ichthyosis vulgaris, a common dermatological disorder. At the same time, high variability in individual variant freque...
I. V. Zavarina, A. Kechin, O. Dolya et al.· Russian Journal of Clinical...· 0 citations
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