ArticleEMBO molecular medicine2021
A homozygous R148W mutation in Semaphorin 7A causes progressive familial intrahepatic cholestasis.
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Article in EMBO molecular medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17citing papers in PubMed
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Who cites it
17 citing papers in PubMed, 30 citations in OpenAlex.
- Genetic testing in liver diseases: Clinical applications.JHEP reports : innovation in hepatology · 2026Review
- Beyond the Pump: The Evolving Molecular Landscape of Intrahepatic Cholestasis.Diagnostics (Basel, Switzerland) · 2026Review
- Challenges in the diagnosis and treatment of genetic cholestasis in adults.JHEP reports : innovation in hepatology · 2026Review
- Multi-omics analysis identifies a microbiota-bile acid-TLR signaling axis driving bladder injury in interstitial cystitis.Nature communications · 2025Article
- New hope in treating progressive familial intrahepatic cholestasis in children.World journal of hepatology · 2025Review
- Semaphorin 7a is protective through immune modulation during acetaminophen-induced liver injury.Journal of inflammation (London, England) · 2025Article
- Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review.Orphanet journal of rare diseases · 2025Review
- The role ofFrontiers in pediatrics · 2025Article
- [Progress in the treatment of progressive familial intrahepatic cholestasis].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2024Review
- Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.Hepatology international · 2024Article
- Semaphorin 7A interacts with nuclear factor NF-kappa-B p105 via integrin β1 and mediates inflammation.Cell communication and signaling : CCS · 2023Article
- Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.Frontiers in pharmacology · 2023Review
- Organic Anion Transporting Polypeptide (OATP) 1B3 is a Significant Transporter for Hepatic Uptake of Conjugated Bile Acids in Humans.Cellular and molecular gastroenterology and hepatology · 2023Article
- Guidelines for the Management of Cholestatic Liver Diseases (2021).Journal of clinical and translational hepatology · 2022Article
- [Guidelines on the management of cholestasis liver diseases (2021)].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2022Article
- A homozygous R148W mutation in Semaphorin 7A causes progressive familial intrahepatic cholestasis.EMBO molecular medicine · 2021Article
- [Construction and verification of a prognostic model combining anoikis and immune prognostic signatures for primary liver cancer].Nan fang yi ke da xue xue bao = Journal of Southern Medical UniversityArticle
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Authors and funding
23 authors at 4 institutions in 2 countries.
Qiong PanCholestatic Liver Diseases Center, Department of Gastroenterology, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.ORCID 0000-0003-1033-3098
Gang LuoCholestatic Liver Diseases Center, Department of Gastroenterology, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Jiaquan QuCholestatic Liver Diseases Center, Department of Gastroenterology, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.ORCID 0000-0002-0204-5646
Sheng ChenDepartment of Pediatrics, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Xiaoxun ZhangCholestatic Liver Diseases Center, Department of Gastroenterology, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.ORCID 0000-0002-3892-7464
Nan ZhaoCholestatic Liver Diseases Center, Department of Gastroenterology, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Jingjing DingCholestatic Liver Diseases Center, Department of Gastroenterology, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Hong YangCholestatic Liver Diseases Center, Department of Gastroenterology, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Mingqiao LiCholestatic Liver Diseases Center, Department of Gastroenterology, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Ling LiCholestatic Liver Diseases Center, Department of Gastroenterology, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Ying ChengCholestatic Liver Diseases Center, Department of Gastroenterology, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Xuan LiCholestatic Liver Diseases Center, Department of Gastroenterology, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Qiaoling XieCholestatic Liver Diseases Center, Department of Gastroenterology, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Qiao LiCholestatic Liver Diseases Center, Department of Gastroenterology, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Xueqian ZhouCholestatic Liver Diseases Center, Department of Gastroenterology, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Huiling ZouDepartment of Pediatrics, Changsha Hospital for Maternal & Child Health Care, Changsha, China.
Shijun FanMedical Research Center, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Lingyun ZouBao'an Maternal and Child Health Hospital, Jinan University, Shenzhen, China.
Wei LiuInstitute of Immunology, Third Military Medical University (Army Medical University), Chongqing, China.
Guohong DengDepartment of Infectious Diseases, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Shi-Ying CaiDepartment of Internal Medicine and Liver Center, Yale University School of Medicine, New Haven, CT, USA.
James L BoyerDepartment of Internal Medicine and Liver Center, Yale University School of Medicine, New Haven, CT, USA.ORCID 0000-0002-8959-6036
Jin ChaiCholestatic Liver Diseases Center, Department of Gastroenterology, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.ORCID 0000-0002-8543-4566
Army Medical University · CNYale University · USChangsha Hospital for Maternal and Child Health Care · CNJinan University · CN
Funding
No grant is acknowledged in the PubMed record.
Abstract
Semaphorin 7A (SEMA7A) is a membrane-bound protein that involves axon growth and other biological processes. SEMA7A mutations are associated with vertebral fracture and Kallmann syndrome. Here, we report a case with a mutation in SEMA7A that displays familial cholestasis. WGS reveals a SEMA7A
Indexed as
CholestasisCholestasis, IntrahepaticSemaphorinsAnimalsAntigens, CDATP-Binding Cassette TransportersChromatography, LiquidFemaleHumansMiceMutationOrganic Anion Transporters, Sodium-DependentSymportersTandem Mass SpectrometryAntigens, CDATP-Binding Cassette TransportersOrganic Anion Transporters, Sodium-DependentSema7a protein, mouseSemaphorinssodium-bile acid cotransporterSymportersbile acidbile salt export pumpliver injuryprogressive familial intrahepatic cholestasissemaphorin 7A
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LicenceCC BY
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Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.