Camaschella C. Iron-deficiency anemia. N Engl J Med. 2015;372(19):1832–43.
Article
Google Scholar
Camaschella C. Iron deficiency. Blood. 2019;133(1):30–9.
Article
CAS
Google Scholar
Pasricha SR, Tye-Din J, Muckenthaler MU, Swinkels DW. Iron deficiency. Lancet. 2021;397(10270):233–48.
Article
CAS
Google Scholar
Lopez A, Cacoub P, Macdougall IC, Peyrin-Biroulet L. Iron deficiency anaemia. Lancet. 2016;387(10021):907–16.
Article
CAS
Google Scholar
De Falco L, Sanchez M, Silvestri L, Kannengiesser C, Muckenthaler MU, Iolascon A, Gouya L, Camaschella C, Beaumont C. Iron refractory iron deficiency anemia. Haematologica. 2013;98(6):845–53.
Article
Google Scholar
Fletcher A, Forbes A, Svenson N, Wayne Thomas D. Guideline for the laboratory diagnosis of iron deficiency in adults (excluding pregnancy) and children. Br J Haematol. 2022;196(3):523–9.
Article
Google Scholar
Snook J, Bhala N, Beales ILP, Cannings D, Kightley C, Logan RP, Pritchard DM, Sidhu R, Surgenor S, Thomas W, et al. British Society of Gastroenterology guidelines for the management of iron deficiency anaemia in adults. Gut. 2021;70(11):2030–51.
Article
CAS
Google Scholar
Ramsay AJ, Hooper JD, Folgueras AR, Velasco G, Lopez-Otin C. Matriptase-2 (TMPRSS6): a proteolytic regulator of iron homeostasis. Haematologica. 2009;94(6):840–9.
Article
CAS
Google Scholar
Du X, She E, Gelbart T, Truksa J, Lee P, Xia Y, Khovananth K, Mudd S, Mann N, Moresco EM, et al. The serine protease TMPRSS6 is required to sense iron deficiency. Science. 2008;320(5879):1088–92.
Article
CAS
Google Scholar
Silvestri L, Pagani A, Nai A, De Domenico I, Kaplan J, Camaschella C. The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin. Cell Metab. 2008;8(6):502–11.
Article
CAS
Google Scholar
Folgueras AR, de Lara FM, Pendas AM, Garabaya C, Rodriguez F, Astudillo A, Bernal T, Cabanillas R, Lopez-Otin C, Velasco G. Membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis. Blood. 2008;112(6):2539–45.
Article
CAS
Google Scholar
Ganz T. Systemic iron homeostasis. Physiol Rev. 2013;93(4):1721–41.
Article
CAS
Google Scholar
Silvestri L, Guillem F, Pagani A, Nai A, Oudin C, Silva M, Toutain F, Kannengiesser C, Beaumont C, Camaschella C, et al. Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. Blood. 2009;113(22):5605–8.
Article
CAS
Google Scholar
Wang CY, Babitt JL. Liver iron sensing and body iron homeostasis. Blood. 2019;133(1):18–29.
Article
CAS
Google Scholar
Camaschella C, Nai A, Silvestri L. Iron metabolism and iron disorders revisited in the hepcidin era. Haematologica. 2020;105(2):260–72.
Article
Google Scholar
Finberg KE, Heeney MM, Campagna DR, Aydinok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, et al. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat Genet. 2008;40(5):569–71.
Article
CAS
Google Scholar
Melis MA, Cau M, Congiu R, Sole G, Barella S, Cao A, Westerman M, Cazzola M, Galanello R. A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron. Haematologica. 2008;93(10):1473–9.
Article
CAS
Google Scholar
Guillem F, Lawson S, Kannengiesser C, Westerman M, Beaumont C, Grandchamp B. Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency. Blood. 2008;112(5):2089–91.
Article
CAS
Google Scholar
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434–43.
Article
CAS
Google Scholar
Zhao T, Fan S, Sun L. The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome. BMC Genom Data. 2021;22(1):50.
Article
CAS
Google Scholar
Sayers EW, Bolton EE, Brister JR, Canese K, Chan J, Comeau DC, Connor R, Funk K, Kelly C, Kim S, et al. Database resources of the national center for biotechnology information. Nucleic Acids Res. 2022;50(D1):D20–6.
Article
CAS
Google Scholar
Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Albarca Aguilera M, Meyer R, Massouras A. VarSome: the human genomic variant search engine. Bioinformatics. 2019;35(11):1978–80.
Article
CAS
Google Scholar
Cunningham F, Allen JE, Allen J, Alvarez-Jarreta J, Amode MR, Armean IM, Austine-Orimoloye O, Azov AG, Barnes I, Bennett R, et al. Ensembl 2022. Nucleic Acids Res. 2022;50(D1):D988–95.
Article
CAS
Google Scholar
UniProt C. UniProt: the universal protein knowledgebase in 2021. Nucleic Acids Res. 2021;49(D1):D480–9.
Article
Google Scholar
Chunn LM, Nefcy DC, Scouten RW, Tarpey RP, Chauhan G, Lim MS, Elenitoba-Johnson KSJ, Schwartz SA, Kiel MJ. Mastermind: a comprehensive genomic association search engine for empirical evidence curation and genetic variant interpretation. Front Genet. 2020;11: 577152.
Article
CAS
Google Scholar
Lee K, Wei CH, Lu Z. Recent advances of automated methods for searching and extracting genomic variant information from biomedical literature. Brief Bioinform. 2021;22(3):bbaa142.
Article
Google Scholar
Liu X, Li C, Mou C, Dong Y, Tu Y. dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. Genome Med. 2020;12(1):103.
Article
CAS
Google Scholar
Zhang J, Yao Y, He H, Shen J. Clinical interpretation of sequence variants. Curr Protoc Hum Genet. 2020;106(1): e98.
Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.
Article
Google Scholar
Preston CG, Wright MW, Madhavrao R, Harrison SM, Goldstein JL, Luo X, Wand H, Wulf B, Cheung G, Mandell ME, et al. ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines. Genome Med. 2022;14(1):6.
Article
Google Scholar
Holmes JB, Moyer E, Phan L, Maglott D, Kattman B. SPDI: data model for variants and applications at NCBI. Bioinformatics. 2020;36(6):1902–7.
Article
CAS
Google Scholar
Pawliczek P, Patel RY, Ashmore LR, Jackson AR, Bizon C, Nelson T, Powell B, Freimuth RR, Strande N, Shah N, et al. ClinGen allele registry links information about genetic variants. Hum Mutat. 2018;39(11):1690–701.
Article
Google Scholar
Lefter M, Vis JK, Vermaat M, den Dunnen JT, Taschner PEM, Laros JFJ. Next generation HGVS nomenclature checker. Bioinformatics. 2021;37(18):2811–7.
Article
CAS
Google Scholar
Freeman PJ, Hart RK, Gretton LJ, Brookes AJ, Dalgleish R. VariantValidator: accurate validation, mapping, and formatting of sequence variation descriptions. Hum Mutat. 2018;39(1):61–8.
Article
Google Scholar
Morales J, Pujar S, Loveland JE, Astashyn A, Bennett R, Berry A, Cox E, Davidson C, Ermolaeva O, Farrell CM, et al. A joint NCBI and EMBL-EBI transcript set for clinical genomics and research. Nature. 2022;604(7905):310–5.
Article
CAS
Google Scholar
Dion SP, Béliveau F, Désilets A, Ghinet MG, Leduc R. Transcriptome analysis reveals TMPRSS6 isoforms with distinct functionalities. J Cell Mol Med. 2018;22(4):2498–509.
Article
CAS
Google Scholar
Liu W, Pajusalu S, Lake NJ, Zhou G, Ioannidis N, Mittal P, Johnson NE, Weihl CC, Williams BA, Albrecht DE, et al. Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases. Genet Med. 2019;21(11):2512–20.
Article
Google Scholar
Xiong Y, Wu Z, Yang W, Zhao X, Peng G, Tang K, Tian Z, Xing H, Rao Q, Wang M, et al. A novel splicing mutation of TMPRSS6 in a Chinese child with iron-refractory iron deficiency anaemia. Br J Haematol. 2015;171(4):647–9.
Article
CAS
Google Scholar
Hershko C, Camaschella C. How I treat unexplained refractory iron deficiency anemia. Blood. 2014;123(3):326–33.
Article
CAS
Google Scholar
Heeney MM, Guo D, De Falco L, Campagna DR, Olbina G, Kao PP, Schmitz-Abe K, Rahimov F, Gutschow P, Westerman K, et al. Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency. Blood. 2018;132(4):448–52.
Article
CAS
Google Scholar
Donker AE, Schaap CC, Novotny VM, Smeets R, Peters TM, van den Heuvel BL, Raphael MF, Rijneveld AW, Appel IM, Vlot AJ, et al. Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory. Am J Hematol. 2016;91(12):E482–90.
Article
CAS
Google Scholar
Girelli D, Nemeth E, Swinkels DW. Hepcidin in the diagnosis of iron disorders. Blood. 2016;127(23):2809–13.
Article
CAS
Google Scholar
Pagani A, Colucci S, Bocciardi R, Bertamino M, Dufour C, Ravazzolo R, Silvestri L, Camaschella C. A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2. Blood. 2017;129(25):3392–5.
Article
CAS
Google Scholar
Chambers JC, Zhang W, Li Y, Sehmi J, Wass MN, Zabaneh D, Hoggart C, Bayele H, McCarthy MI, Peltonen L, et al. Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. Nat Genet. 2009;41(11):1170–2.
Article
CAS
Google Scholar
Benyamin B, Ferreira MA, Willemsen G, Gordon S, Middelberg RP, McEvoy BP, Hottenga JJ, Henders AK, Campbell MJ, Wallace L, et al. Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. Nat Genet. 2009;41(11):1173–5.
Article
CAS
Google Scholar
Poggiali E, Andreozzi F, Nava I, Consonni D, Graziadei G, Cappellini MD. The role of TMPRSS6 polymorphisms in iron deficiency anemia partially responsive to oral iron treatment. Am J Hematol. 2015;90(4):306–9.
Article
CAS
Google Scholar
Buerkli S, Pei SN, Hsiao SC, Lee CT, Zeder C, Zimmermann MB, Moretti D. The <em>TMPRSS6</em> variant (SNP rs855791) affects iron metabolism and oral iron absorption - a stable iron isotope study in Taiwanese women. Haematologica. 2021;106(11):2897–905.
Article
CAS
Google Scholar
Sharma P, Bhatia P, Singh M, Das R, Jain R, Bansal D, Attri SV, Trehan A. A case series highlighting structured hematological, biochemical and molecular approach to clinical oral iron refractoriness in children: A pressing need for a 3-tier system for classification of variants in TMPRSS6 gene. Blood Cells Mol Dis. 2021;89: 102569.
Article
CAS
Google Scholar
Shen X, Song S, Li C, Zhang J: Synonymous mutations in representative yeast genes are mostly strongly non-neutral. Nature 2022.
Shi X, Liu H, Zhan S, Wang Z, Wang L, Dong C, Wang Y, Yao C, Ding J, Li Y. Rare diseases in China: analysis of 2014–2015 hospitalization summary reports for 281 rare diseases from 96 tertiary hospitals. Orphanet J Rare Dis. 2019;14(1):160.
Article
Google Scholar
Guo J, Liu P, Chen L, Lv H, Li J, Yu W, Xu K, Zhu Y, Wu Z, Tian Z, et al. National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses. Orphanet J Rare Dis. 2021;16(1):515.
Article
Google Scholar
Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAG, Corvelo A, Gogarten SM, Kang HM, et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021;590(7845):290–9.
Article
CAS
Google Scholar
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfoldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434–43.
Article
CAS
Google Scholar
Zhang P, Luo H, Li Y, Wang Y, Wang J, Zheng Y, Niu Y, Shi Y, Zhou H, Song T, et al. NyuWa genome resource: a deep whole-genome sequencing-based variation profile and reference panel for the Chinese population. Cell Rep. 2021;37(7): 110017.
Article
CAS
Google Scholar
Cong P-K, Bai W-Y, Li J-C, Yang M-Y, Khederzadeh S, Gai S-R, Li N, Liu Y-H, Yu S-H, Zhao W-W, et al. Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project. Nat Commun. 2022;13(1):2939.
Article
CAS
Google Scholar
Gao Y, Zhang C, Yuan L, Ling Y, Wang X, Liu C, Pan Y, Zhang X, Ma X, Wang Y et al: PGG.Han: the Han Chinese genome database and analysis platform. Nucleic Acids Res 2020, 48(D1):D971-d976.
Cao Y, Li L, Xu M, Feng Z, Sun X, Lu J, Xu Y, Du P, Wang T, Hu R, et al. The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals. Cell Res. 2020;30(9):717–31.
Article
Google Scholar
Frazer J, Notin P, Dias M, Gomez A, Min JK, Brock K, Gal Y, Marks DS. Disease variant prediction with deep generative models of evolutionary data. Nature. 2021;599(7883):91–5.
Article
CAS
Google Scholar
Rivera-Muñoz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, et al. ClinGen variant curation expert panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. Hum Mutat. 2018;39(11):1614–22.
Article
Google Scholar