Associated Papers
The SEMA7AN559Y mutation facilitates the development of metabolic dysfunction-associated steatotic liver disease by inducing ROS/NLRP3-mediated hepatic cell pyroptosis.
Zhang X et al.
Metabolism: Clinical and Experimental, 2026
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Hepatic GDP-fucose transporter SLC35C1 attenuates cholestatic liver injury and inflammation by inducing CEACAM1 N153 fucosylation.
Zhang L et al.
Hepatology (baltimore, Md.), 2025
38985995 (PubMed )
Supplement: hep-81-0774-s001.pdf
Semaphorin 7A interacts with nuclear factor NF-kappa-B p105 via integrin β1 and mediates inflammation.
Li X et al.
Cell Communication and Signaling : Ccs, 2023
Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.
Xie S et al.
Frontiers in Pharmacology, 2023
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
Erratum to a partial loss-of-function variant in GNRNR gene in a Chinese cohort with idiopathic hypogonadotropic hypogonadism.
Unknown Author
Translational Andrology and Urology, 2022
36507481 (PubMed )
Supplement: tau-11-11-1611-supplementary.pdf
SEMA7AR148W mutation promotes lipid accumulation and NAFLD progression via increased localization on the hepatocyte surface.
Zhao N et al.
Jci Insight, 2022
RBCeq: A robust and scalable algorithm for accurate genetic blood typing.
Jadhao S et al.
Ebiomedicine, 2022
35033986 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table11
New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.
Gach A et al.
Archives of Medical Science : Ams, 2022
A homozygous R148W mutation in Semaphorin 7A causes progressive familial intrahepatic cholestasis.
Pan Q et al.
Embo Molecular Medicine, 2021
A partial loss-of-function variant in GNRNR gene in a Chinese cohort with idiopathic hypogonadotropic hypogonadism.
Chen Y et al.
Translational Andrology and Urology, 2021
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
34603379 (PubMed )
Supplement: Data_Sheet_2.XLSX › DX1616_21D03390595-1
Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.
Känsäkoski J et al.
Pediatric Research, 2014
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