ArticlePancreas2016
FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction.
Article in Pancreas, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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Who cites it
23 citing papers in PubMed, 38 citations in OpenAlex.
- An Integrative Genotyping and Gene Expression Profiling of the Mutated Human FAM111B Gene and Fibrosis-Associated Pathway in the POIKTMP Syndrome.Journal of cellular and molecular medicine · 2025Article
- Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.Hepatology international · 2024Article
- Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications.International journal of molecular sciences · 2024Review
- Overexpressed FAM111B degrades GSDMA to promote esophageal cancer tumorigenesis and cisplatin resistance.Cellular oncology (Dordrecht, Netherlands) · 2024Article
- Article
- Silencing of FAM111B inhibits tumor growth and promotes apoptosis by decreasing AKT activity in ovarian cancer.Experimental biology and medicine (Maywood, N.J.) · 2023Article
- Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia.Frontiers in genetics · 2023Article
- Case report: Discovery of aFrontiers in immunology · 2023Article
- Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma negatively regulates telomere length.Frontiers in cell and developmental biology · 2023Article
- Clinicopathological features, prognostic significance, and associated tumor cell functions of family with sequence similarity 111 member B in pancreatic adenocarcinoma.Journal of clinical laboratory analysis · 2022Article
- Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.American journal of medical genetics. Part A · 2022Review
- Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases.Experimental dermatology · 2022Review
- Novel necroptosis-related gene signature for predicting the prognosis of pancreatic adenocarcinoma.Aging · 2022Article
- Proposed Cellular Function of the Human FAM111B Protein and Dysregulation in Fibrosis and Cancer.Frontiers in oncology · 2022Review
- Identification of Human Cell Cycle Phase Markers Based on Single-Cell RNA-Seq Data by Using Machine Learning Methods.BioMed research international · 2022Article
- Case Report: Diverse phenotypes of congenital poikiloderma associated withFrontiers in genetics · 2022Article
- Functions and evolution of FAM111 serine proteases.Frontiers in molecular biosciences · 2022Review
- Combining Single-Cell and Transcriptomic Data Revealed the Prognostic Significance of Glycolysis in Pancreatic Cancer.Frontiers in genetics · 2022Article
- Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition.Genetics and molecular biology · 2021Article
- Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant ofJAAD case reports · 2020Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
objectivesFew genetic causes of exocrine pancreatic dysfunction have been described to date. We identified a family with multiple affected members manifesting exocrine pancreatic dysfunction. Additional associated features included facial rash, sparse hair, hypohidrosis, and swelling of the extremities. The transmission pattern of these clinical features was consistent with an autosomal dominant mode of inheritance. The 2 proband siblings also had transient elevated liver transaminases with hepatic steatosis early in life. This study identifies the genetic cause of exocrine pancreatic dysfunction in this family.
methodsWhole exome sequencing was performed to identify the genetic cause of exocrine pancreatic dysfunction.
resultsA heterozygous germline in-frame deletion in the gene FAM111B (c.1261_1263delAAG, p.Lys421del) cosegregated with the phenotype: the variant was present in all affected relatives genotyped and absent in all unaffected relatives genotyped. The variant is also absent from public control sequence databases.
conclusionsOur findings implicate FAM111B in autosomal dominantly inheritable exocrine pancreatic dysfunction.
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Registered trials
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 OpenQuestion graph.