{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T06:54:17Z","timestamp":1777013657183,"version":"3.51.4"},"reference-count":60,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T00:00:00Z","timestamp":1776988800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T00:00:00Z","timestamp":1776988800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Appl Genetics"],"DOI":"10.1007\/s13353-026-01062-x","type":"journal-article","created":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T06:27:30Z","timestamp":1777012050000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Modern approaches to the diagnosis of alpha-tryptasemia"],"prefix":"10.1007","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-9028-952X","authenticated-orcid":false,"given":"Lisiecka Maria","family":"Zofia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luczak","family":"Joanna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,4,24]]},"reference":[{"issue":"7","key":"1062_CR49","doi-asserted-by":"publisher","first-page":"1171","DOI":"10.3390\/medicina60071171","volume":"60","author":"S Abisheva","year":"2024","unstructured":"Abisheva S, Rutskaya-Moroshan K, Nuranova G, Batyrkhan T, Abisheva A (2024) Antimalarial drugs at the intersection of SARS-CoV-2 and rheumatic diseases: What are the potential opportunities? Med (Lithuania) 60(7):1171. https:\/\/doi.org\/10.3390\/medicina60071171","journal-title":"Med (Lithuania)"},{"key":"1062_CR60","doi-asserted-by":"publisher","first-page":"e132055","DOI":"10.1172\/jci.insight.132055","volume":"5","author":"S Ahmadi","year":"2020","unstructured":"Ahmadi S, Wang S, Nagpal R, Wang B, Jain S, Razazan A, Mishra S, Zhu X, Wang Z, Kavanagh K, Yadav H (2020) A human-origin probiotic cocktail ameliorates aging-related leaky gut and inflammation via modulating microbiota-taurine-tight junction axis. JCI Insight 5:e132055. https:\/\/doi.org\/10.1172\/jci.insight.132055","journal-title":"JCI Insight"},{"key":"1062_CR9","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1093\/clinchem\/hvad206","volume":"70","author":"A Alheraky","year":"2023","unstructured":"Alheraky A, Wierenga A, Simpelaar A, Hesp L, Minovi\u0107 I, Bagheri N, Roozendaal C, Span L, Elberink H, Kema I, Mulder A (2023) Hereditary alpha tryptasemia: Validation of a single-well multiplex digital droplet PCR assay in a cohort of symptomatic patients. Clin Chem 70:425\u2013433. https:\/\/doi.org\/10.1093\/clinchem\/hvad206","journal-title":"Clin Chem"},{"issue":"1","key":"1062_CR26","doi-asserted-by":"publisher","first-page":"131","DOI":"10.37800\/RM.1.2024.131-137","volume":"2024","author":"MA Bakirzhan","year":"2024","unstructured":"Bakirzhan MA, Kozhemzharova MK, Kuanyshbaeva GS, Doszhanova GN, Karkabaeva AD (2024) Clinical case of hyperandrogenism in a patient with Itsenko-Cushing disease. Reprod Med Centr Asia 2024(1):131\u2013134. https:\/\/doi.org\/10.37800\/RM.1.2024.131-137","journal-title":"Reprod Med Centr Asia"},{"issue":"4","key":"1062_CR42","doi-asserted-by":"publisher","first-page":"e294","DOI":"10.1111\/hae.13771","volume":"25","author":"A Banchev","year":"2019","unstructured":"Banchev A, Stoyanova D, Konstantinov D, Ignatova I, Peteva E, Kaleva V, Kostova S, Petkova N, Dineva A, Pavlova A (2019) Beyond the bleeding rates - HEAD-US joint assessment in patients treated by late prophylaxis. Haemoph 25(4):e294\u2013e297. https:\/\/doi.org\/10.1111\/hae.13771","journal-title":"Haemoph"},{"issue":"127","key":"1062_CR29","doi-asserted-by":"publisher","first-page":"111","DOI":"10.15574\/SP.2022.127.111","volume":"7","author":"VS Berezenko","year":"2022","unstructured":"Berezenko VS, Mykhailiuk KZ, Krechko YV, Tkalyk OM, Dyba MB, Bezpala AV (2022) Ornithine transcarbamylase deficiency is a little-known rare disease in pediatric hepatology (clinical case). Mod Pediatr Ukraine 7(127):111\u2013116. https:\/\/doi.org\/10.15574\/SP.2022.127.111","journal-title":"Mod Pediatr Ukraine"},{"key":"1062_CR43","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1080\/17843286.2022.2137631","volume":"78","author":"M Beyens","year":"2022","unstructured":"Beyens M, Elst J, Poorten M, Gasse A, Toscano A, Verlinden A, Vermeulen K, Maes M, Hanneke J, Elberink O, Ebo D, Sabato V (2022) Mastocytosis and related entities: A practical roadmap. Acta Clin Belg 78:325\u2013335. https:\/\/doi.org\/10.1080\/17843286.2022.2137631","journal-title":"Acta Clin Belg"},{"key":"1062_CR40","doi-asserted-by":"publisher","first-page":"3662","DOI":"10.3390\/diagnostics13243662","volume":"13","author":"M Beyens","year":"2023","unstructured":"Beyens M, Toscano A, Ebo D, G\u00fclen T, Sabato V (2023) Diagnostic significance of tryptase for suspected mast cell disorders. Diagnostics 13:3662. https:\/\/doi.org\/10.3390\/diagnostics13243662","journal-title":"Diagnostics"},{"key":"1062_CR61","doi-asserted-by":"publisher","first-page":"1484","DOI":"10.3389\/fphys.2019.01484","volume":"10","author":"JF Burgue\u00f1o","year":"2019","unstructured":"Burgue\u00f1o JF, Fritsch J, Santander AM, Brito N, Fern\u00e1ndez I, Pignac-Kobinger J, Conner G, Abreu M (2019) Intestinal epithelial cells respond to chronic inflammation and dysbiosis by synthesizing H\u2082O\u2082. Front Physiol 10:1484. https:\/\/doi.org\/10.3389\/fphys.2019.01484","journal-title":"Front Physiol"},{"key":"1062_CR2","doi-asserted-by":"publisher","first-page":"728","DOI":"10.1016\/j.jaci.2021.06.017","volume":"149","author":"M Chollet","year":"2021","unstructured":"Chollet M, Akin C (2021) Hereditary alpha tryptasemia is not associated with specific clinical phenotypes. J Allergy Clin Immunol 149:728\u2013735. https:\/\/doi.org\/10.1016\/j.jaci.2021.06.017","journal-title":"J Allergy Clin Immunol"},{"issue":"12","key":"1062_CR44","first-page":"426","volume":"67","author":"O Dobrovanov","year":"2018","unstructured":"Dobrovanov O, Kr\u00e1linsk\u00fd K (2018) Sonographic screening of congenital kidney malformations in Slovakia. Lek Obz 67(12):426\u2013429","journal-title":"Lek Obz"},{"key":"1062_CR56","doi-asserted-by":"publisher","first-page":"7357","DOI":"10.3390\/molecules27217357","volume":"27","author":"X Feng","year":"2022","unstructured":"Feng X, Ding L, Zhang Y, Sun Y, Li Z, Tao X, Ali A, Wang D, Wu L (2022) Lactobacillus rhamnosus TR08 improves dyslipidemia in mice fed with a high fat diet by regulating the intestinal microbiota, reducing systemic inflammatory response, and promoting sphingomholipid metabolism. Molecules 27:7357. https:\/\/doi.org\/10.3390\/molecules27217357","journal-title":"Molecules"},{"key":"1062_CR4","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1016\/j.anai.2021.01.016","volume":"126","author":"M Giannetti","year":"2021","unstructured":"Giannetti M, Weller E, Bormans C, Novak P, Hamilton M, Castells M (2021) Hereditary alpha-tryptasemia in 101 patients with mast cell activation-related symptomatology including anaphylaxis. Ann Allergy Asthma Immunol 126:655\u2013660. https:\/\/doi.org\/10.1016\/j.anai.2021.01.016","journal-title":"Ann Allergy Asthma Immunol"},{"key":"1062_CR13","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1111\/all.15911","volume":"79","author":"D Gonz\u00e1lez-de-Olano","year":"2024","unstructured":"Gonz\u00e1lez-de-Olano D, Navarro-Navarro P, Mu\u00f1oz-Gonz\u00e1lez JI, S\u00e1nchez-Mu\u00f1oz L, Henriques A, de-Andr\u00e9s-Mart\u00edn A, Peralta-Arjonilla D, Mayado A, Jara-Acevedo M, Garc\u00eda-Montero AC, Orfao A, \u00c1lvarez-Twose I (2024) Clinical impact of the TPSAB1 genotype in mast cell diseases: A REMA study in a cohort of 959 individuals. Allergy 79:711\u2013723. https:\/\/doi.org\/10.1111\/all.15911","journal-title":"Allergy"},{"key":"1062_CR12","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1182\/blood.2020006157","volume":"137","author":"G Greiner","year":"2021","unstructured":"Greiner G, Sprinzl B, G\u00f3rska A, Ratzinger F, Gurbisz M, Witzeneder N, Schmetterer KG, Gisslinger B, Uyanik G, Hadzijusufovic E, Esterbauer H, Gleixner KV, Krauth MT, Pfeilst\u00f6cker M, Keil F, Gisslinger H, Nedoszytko B, Niedoszytko M, Sperr WR, Valent P, Hoermann G (2021) Hereditary \u03b1 tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis. Blood 137:238\u2013247. https:\/\/doi.org\/10.1182\/blood.2020006157","journal-title":"Blood"},{"issue":"3","key":"1062_CR30","doi-asserted-by":"publisher","first-page":"656","DOI":"10.47307\/GMC.2023.131.3.17","volume":"131","author":"IT Gulamov","year":"2023","unstructured":"Gulamov IT, Abylov KT, Nurlan RU, Satyvaldiev ME, Kalmatov RK, Batyraliev TA (2023) Urogenital disease morbidity among the adult and child population of the Osh Region for the period from 2010 to 2019. Gaceta Med Carac 131(3):656\u2013661. https:\/\/doi.org\/10.47307\/GMC.2023.131.3.17","journal-title":"Gaceta Med Carac"},{"key":"1062_CR58","doi-asserted-by":"publisher","first-page":"577081","DOI":"10.3389\/fmed.2021.577081","volume":"8","author":"L Hern\u00e1ndez-Hern\u00e1ndez","year":"2021","unstructured":"Hern\u00e1ndez-Hern\u00e1ndez L, Sanz C, Marcos-Vadillo E, Garc\u00eda-S\u00e1nchez A, Moreno E, Lorente F, Gonz\u00e1lez-de-Olano D, D\u00e1vila I, Isidoro-Garc\u00eda M (2021) Increased TPSAB1 copy number in a family with elevated basal serum levels of tryptase. Front Med 8:577081. https:\/\/doi.org\/10.3389\/fmed.2021.577081","journal-title":"Front Med"},{"key":"1062_CR53","doi-asserted-by":"publisher","first-page":"1676","DOI":"10.3389\/fmicb.2019.01676","volume":"10","author":"S Iacob","year":"2019","unstructured":"Iacob S, Iacob D (2019) Infectious threats, the intestinal barrier, and its trojan horse: Dysbiosis. Front Microbiol 10:1676. https:\/\/doi.org\/10.3389\/fmicb.2019.01676","journal-title":"Front Microbiol"},{"key":"1062_CR23","doi-asserted-by":"publisher","first-page":"8798","DOI":"10.1039\/c8nr08741e","volume":"11","author":"L Jiao","year":"2019","unstructured":"Jiao L, Zhang L, Du W, Li H, Yang D, Zhu C (2019) Au@Pt nanodendrites enhanced multimodal enzyme-linked immunosorbent assay. Nanoscale 11:8798\u20138802. https:\/\/doi.org\/10.1039\/c8nr08741e","journal-title":"Nanoscale"},{"issue":"1","key":"1062_CR39","doi-asserted-by":"publisher","first-page":"57","DOI":"10.47176\/mjiri.38.57","volume":"38","author":"K Kashikova","year":"2024","unstructured":"Kashikova K, Nabiyev E, Askerov R, Argynbayev Z, AbuJazar U, Baizakov A, Turbekov N (2024) Epidemiology of proximal femural fractures among the elderly people of Almaty city. Med J Islam Repub Iran 38(1):57. https:\/\/doi.org\/10.47176\/mjiri.38.57","journal-title":"Med J Islam Repub Iran"},{"issue":"S1","key":"1062_CR31","doi-asserted-by":"publisher","first-page":"2546","DOI":"10.1182\/blood-2023-188962","volume":"142","author":"D Koch","year":"2023","unstructured":"Koch D, Stocker H, Wortmann F, Axt F, Khandanpour C, Dazert E, Sina C, von Bubnoff D, von Bubnoff N (2023) Liquid biopsy enhances diagnostic workup of hereditary alpha-tryptasemia (HaT) and systemic mastocytosis (SM) in patients with mast cell-mediated symptoms and elevated basal tryptase levels. Blood 142(S1):2546. https:\/\/doi.org\/10.1182\/blood-2023-188962","journal-title":"Blood"},{"key":"1062_CR7","doi-asserted-by":"publisher","first-page":"2458","DOI":"10.1111\/all.16084","volume":"79","author":"P Koro\u0161ec","year":"2024","unstructured":"Koro\u0161ec P, Sturm GJ, Lyons JJ, Marolt TP, Svetina M, Ko\u0161nik M, Zidarn M, Ka\u010dar M, Frelih N, Lalek N, Luzar AD, Zver S, \u0160kerget M, Czarnobilska E, Dyga W, Grle SP, Samarzija M, Arzt-Gradwohl L, \u010cerpes U, Porebski G, Pevec B, Schadelbauer E, Kopa\u010d P, \u0160elb J, Rijavec M (2024) High burden of clonal mast cell disorders and hereditary \u03b1-tryptasemia in patients who need Hymenoptera venom immunotherapy. Allergy 79:2458\u20132469. https:\/\/doi.org\/10.1111\/all.16084","journal-title":"Allergy"},{"key":"1062_CR11","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1111\/ejh.12128","volume":"91","author":"T Kristensen","year":"2013","unstructured":"Kristensen T, Broesby-Olsen S, Vestergaard H, Bindslev-Jensen C, M\u00f8ller MB, Mastocytosis Centre Odense University Hospital (2013) Serum tryptase correlates with the KIT D816V mutation burden in adults with indolent systemic mastocytosis. Eur J Haematol 91:106\u2013111. https:\/\/doi.org\/10.1111\/ejh.12128","journal-title":"Eur J Haematol"},{"key":"1062_CR57","doi-asserted-by":"publisher","first-page":"1388","DOI":"10.3390\/biomedicines11051388","volume":"11","author":"C Kunst","year":"2023","unstructured":"Kunst C, Schmid S, Michalski M, T\u00fcmen D, Buttensch\u00f6n J, M\u00fcller M, G\u00fclow K (2023) The influence of gut microbiota on oxidative stress and the immune system. Biomedicines 11:1388. https:\/\/doi.org\/10.3390\/biomedicines11051388","journal-title":"Biomedicines"},{"key":"1062_CR17","first-page":"99","volume":"1","author":"PV Kuzyk","year":"2015","unstructured":"Kuzyk PV (2015) Pathomorphological features of pulmonary tuberculoma (according to the analysis of operational resection material). Pathol 1:99\u2013101","journal-title":"Pathol"},{"issue":"S1","key":"1062_CR47","doi-asserted-by":"publisher","first-page":"96","DOI":"10.5045\/br.2023.2023024","volume":"58","author":"HJ Lee","year":"2023","unstructured":"Lee HJ (2023) Recent advances in diagnosis and therapy in systemic mastocytosis. Blood Res 58(S1):96\u2013108. https:\/\/doi.org\/10.5045\/br.2023.2023024","journal-title":"Blood Res"},{"issue":"4","key":"1062_CR27","doi-asserted-by":"publisher","first-page":"297","DOI":"10.5114\/pg.2021.111763","volume":"16","author":"K Lewandowski","year":"2021","unstructured":"Lewandowski K, Rydzewska G, Ledwo\u0144 TK (2021) Preparation for endoscopic examinations in patients with diabetes and hypoglycaemia. Przeg Gastroenterol 16(4):297\u2013305. https:\/\/doi.org\/10.5114\/pg.2021.111763","journal-title":"Przeg Gastroenterol"},{"key":"1062_CR46","doi-asserted-by":"publisher","first-page":"5626","DOI":"10.3390\/cancers15235626","volume":"15","author":"JY Li","year":"2023","unstructured":"Li JY, Ryder CB, Zhang H, Cockey SG, Hyjek E, Moscinski LC, Sagatys E, Song J (2023) Review and updates on systemic mastocytosis and related entities. Cancers 15:5626. https:\/\/doi.org\/10.3390\/cancers15235626","journal-title":"Cancers"},{"key":"1062_CR19","doi-asserted-by":"publisher","first-page":"e0291947","DOI":"10.1371\/journal.pone.0291947","volume":"19","author":"O Li","year":"2024","unstructured":"Li O, Hackney J, Choy D, Chang D, Nersesian R, Staton T, Cai F, Eshghi S (2024) A targeted amplicon next-generation sequencing assay for tryptase genotyping to support personalized therapy in mast cell-related disorders. PLoS ONE 19:e0291947. https:\/\/doi.org\/10.1371\/journal.pone.0291947","journal-title":"PLoS ONE"},{"key":"1062_CR21","doi-asserted-by":"publisher","first-page":"2851","DOI":"10.1039\/d2an00691j","volume":"147","author":"X Liang","year":"2022","unstructured":"Liang X, Lin Z, Li L, Tang D, Kong J (2022) Ratiometric fluorescence enzyme-linked immunosorbent assay based on carbon dots@SiO2@CdTe quantum dots with dual functionalities for alpha-fetoprotein. Analyst 147:2851\u20132858. https:\/\/doi.org\/10.1039\/d2an00691j","journal-title":"Analyst"},{"key":"1062_CR54","doi-asserted-by":"publisher","first-page":"3164","DOI":"10.3390\/cells10113164","volume":"10","author":"I Malesza","year":"2021","unstructured":"Malesza I, Malesza M, Walkowiak J, Mussin N, Walkowiak D, Aringazina R, Bartkowiak-Wieczorek J, M\u0105dry E (2021) High-fat, western-style diet, systemic inflammation, and gut microbiota: A narrative review. Cells 10:3164. https:\/\/doi.org\/10.3390\/cells10113164","journal-title":"Cells"},{"issue":"12","key":"1062_CR35","doi-asserted-by":"publisher","first-page":"2100","DOI":"10.3390\/medicina60122100","volume":"60","author":"D Markov","year":"2024","unstructured":"Markov D, Bechev K, Khalid U, Aleksiev V, Markov G, Poryazova E (2024) A rare case of concurrent intraventricular meningioma and choroid plexus papilloma: A case report. Med (Lithuania) 60(12):2100. https:\/\/doi.org\/10.3390\/medicina60122100","journal-title":"Med (Lithuania)"},{"issue":"1","key":"1062_CR33","doi-asserted-by":"publisher","first-page":"108","DOI":"10.47176\/mjiri.37.108","volume":"37","author":"E Nabiyev","year":"2023","unstructured":"Nabiyev E, Baizakov A, Kashikova K, Askerov R, Argynbayev Z, Bissaliyev B (2023a) A new approach to arthroscopic stitching of the knee joint meniscus: A mathematical justification. Med J Islam Repub Iran 37(1):108. https:\/\/doi.org\/10.47176\/mjiri.37.108","journal-title":"Med J Islam Repub Iran"},{"issue":"1","key":"1062_CR34","doi-asserted-by":"publisher","first-page":"e2084238","DOI":"10.1080\/24709360.2022.2084238","volume":"7","author":"Y Nabiyev","year":"2023","unstructured":"Nabiyev Y, Tezekbayev K, Baubekov Z, Khalkhojayev M, Aubakirov M, Aubakirova S, Turbekov N, Beisenov B, Fakhradiyev I, Tanabayeva S, Katarbayev A (2023b) Epidemiology evaluation of lower limb injuries in Kazakhstan. Biostat Epidem 7(1):e2084238. https:\/\/doi.org\/10.1080\/24709360.2022.2084238","journal-title":"Biostat Epidem"},{"issue":"1","key":"1062_CR48","doi-asserted-by":"publisher","first-page":"58","DOI":"10.47176\/mjiri.38.58","volume":"38","author":"E Nabiyev","year":"2024","unstructured":"Nabiyev E, Askerov R, Kashikova K, Baizakov A, Argynbayev Z, Baubekov Z, Baikubesov K (2024) Migration of the Gamma Nail Neck Screw into the pelvis with bladder damage. Med J Islam Repub Iran 38(1):58. https:\/\/doi.org\/10.47176\/mjiri.38.58","journal-title":"Med J Islam Repub Iran"},{"issue":"2","key":"1062_CR20","first-page":"261","volume":"27","author":"E Nikolaev","year":"2022","unstructured":"Nikolaev E, Kostov D, Valcheva M, Mircheva I (2022) Spontaneous rupture of hepatic hemangioma - three clinical cases and literature review. Surg Chron 27(2):261\u2013265","journal-title":"Surg Chron"},{"issue":"1","key":"1062_CR28","first-page":"20","volume":"30","author":"E Nikolaev","year":"2025","unstructured":"Nikolaev E, Valcheva M, Terzi V, Kostov D, Mircheva I (2025) Is the size of the liver hemangioma affected by the age and gender of the patients? Surg Chron 30(1):20\u201325","journal-title":"Surg Chron"},{"key":"1062_CR10","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1097\/ACI.0000000000000813","volume":"22","author":"M O\u2019Connell","year":"2022","unstructured":"O\u2019Connell M, Lyons J (2022) Resolving the genetics of human tryptases: implications for health, disease, and clinical use as a biomarker. Curr Opin Allergy Clin Immunol 22:143\u2013152. https:\/\/doi.org\/10.1097\/ACI.0000000000000813","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"1062_CR59","doi-asserted-by":"publisher","first-page":"4603","DOI":"10.3390\/ijms20184603","volume":"20","author":"K Ohneda","year":"2019","unstructured":"Ohneda K, Ohmori S, Yamamoto M (2019) Mouse tryptase gene expression is coordinately regulated by GATA1 and GATA2 in bone marrow-derived mast cells. Int J Mol Sci 20:4603. https:\/\/doi.org\/10.3390\/ijms20184603","journal-title":"Int J Mol Sci"},{"key":"1062_CR41","doi-asserted-by":"publisher","first-page":"7071","DOI":"10.3390\/ijms24087071","volume":"24","author":"R Parente","year":"2023","unstructured":"Parente R, Giudice V, Cardamone C, Serio B, Selleri C, Triggiani M (2023) Secretory and membrane-associated biomarkers of mast cell activation and proliferation. Int J Mol Sci 24:7071. https:\/\/doi.org\/10.3390\/ijms24087071","journal-title":"Int J Mol Sci"},{"key":"1062_CR37","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1016\/j.ebiom.2019.03.080","volume":"43","author":"G Pellizzari","year":"2019","unstructured":"Pellizzari G, Hoskin C, Crescioli S, Mele S, Gotovina J, Chiaruttini G, Bianchini R, Ilieva K, Bax H, Papa S, Lacy K, Jensen-Jarolim E, Tsoka S, Josephs D, Spicer J, Karagiannis S (2019) IgE re-programs alternatively-activated human macrophages towards pro-inflammatory anti-tumoural states. EBioMedicine 43:67\u201381. https:\/\/doi.org\/10.1016\/j.ebiom.2019.03.080","journal-title":"EBioMedicine"},{"key":"1062_CR62","doi-asserted-by":"publisher","first-page":"e00616","DOI":"10.1128\/spectrum.00616-22","volume":"10","author":"A Pisani","year":"2022","unstructured":"Pisani A, Rausch P, Bang C, Ellul S, Tabone T, Cordina M, Zahra G, Franke A, Ellul P (2022) Dysbiosis in the gut microbiota in patients with inflammatory bowel disease during remission. Microbiol Spectr 10:e00616\u2013e00622. https:\/\/doi.org\/10.1128\/spectrum.00616-22","journal-title":"Microbiol Spectr"},{"key":"1062_CR1","doi-asserted-by":"publisher","first-page":"1461359","DOI":"10.3389\/falgy.2024.1461359","volume":"5","author":"V Puxkandl","year":"2024","unstructured":"Puxkandl V, Aigner S, Hoetzenecker W, Altrichter S (2024) Hereditary alpha tryptasemia: Elevated tryptase, female sex, thyroid disorders, and anaphylaxis. Front Allergy 5:1461359. https:\/\/doi.org\/10.3389\/falgy.2024.1461359","journal-title":"Front Allergy"},{"key":"1062_CR5","doi-asserted-by":"publisher","first-page":"3549","DOI":"10.1016\/j.jaip.2020.05.057","volume":"8","author":"R Robey","year":"2020","unstructured":"Robey R, Wilcock A, Bonin H, Beaman G, Myers B, Grattan C, Briggs T, Arkwright P (2020) Hereditary alpha-tryptasemia: UK prevalence and variability in disease expression. J Allergy Clin Immunol Pract 8:3549\u20133556. https:\/\/doi.org\/10.1016\/j.jaip.2020.05.057","journal-title":"J Allergy Clin Immunol Pract"},{"key":"1062_CR6","first-page":"120","volume":"45","author":"B Rogala","year":"2024","unstructured":"Rogala B, Michalik Z, Kapelka K (2024) Alpha-tryptasemia \u2013 Biomarker of ambiguous pathology. Pol J Immunol 45:120\u2013135. https:\/\/www.alergia-astma-immunologia.pl\/2024_29_4\/3_Rogala_manuskrypt_1_scalone.pdf","journal-title":"Pol J Immunol"},{"key":"1062_CR38","doi-asserted-by":"publisher","first-page":"1361","DOI":"10.3389\/fimmu.2019.01361","volume":"10","author":"E R\u00f6nnberg","year":"2019","unstructured":"R\u00f6nnberg E, Ghaib A, Ceriol C, Enoksson M, Arock M, S\u00e4fholm J, Ekoff M, Nilsson G (2019) Divergent effects of acute and prolonged interleukin 33 exposure on mast cell IgE-mediated functions. Front Immunol 10:1361. https:\/\/doi.org\/10.3389\/fimmu.2019.01361","journal-title":"Front Immunol"},{"key":"1062_CR3","doi-asserted-by":"publisher","DOI":"10.5603\/fd.96810","author":"A Rydz","year":"2023","unstructured":"Rydz A, Lange M (2023) Hereditary alpha tryptasemia: Literature overview on the genetic trait and its clinical manifestations. Forum Dermatol. https:\/\/doi.org\/10.5603\/fd.96810","journal-title":"Forum Dermatol"},{"key":"1062_CR55","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1093\/jcag\/gwz047.042","volume":"3","author":"Z Saqib","year":"2020","unstructured":"Saqib Z, Palma G, Lu J, Bercik P, Collins S (2020) A43 \u03b2-defensins as markers of intestinal dysbiosis: The nature of changes in \u03b2-defensins is dependent on the process underlying the induction of dysbiosis. J Can Assoc Gastroenterol 3:51\u201352. https:\/\/doi.org\/10.1093\/jcag\/gwz047.042","journal-title":"J Can Assoc Gastroenterol"},{"key":"1062_CR15","doi-asserted-by":"publisher","first-page":"19213","DOI":"10.4049\/jimmunol.202.Supp.192.13","volume":"202","author":"JF Shirley","year":"2019","unstructured":"Shirley JF, Drourr J, Edwards WT, Tuna KM, Ryan L, Alli A, Tang Y, Glover S (2019) Mast cells in patients with hereditary \u03b1-tryptasemia promote HLA-DR expression and a Th2-polarizing microenvironment in the gastrointestinal tract. J Immunol 202:19213. https:\/\/doi.org\/10.4049\/jimmunol.202.Supp.192.13","journal-title":"J Immunol"},{"key":"1062_CR36","doi-asserted-by":"publisher","first-page":"1491","DOI":"10.2147\/DMSO.S253147","volume":"13","author":"K Takata","year":"2020","unstructured":"Takata K, Uchida K, Mukai M, Takano S, Aikawa J, Iwase D, Sekiguchi H, Miyagi M, Inoue G, Takaso M (2020) Increase in tryptase and its role in the synovial membrane of overweight and obese patients with osteoarthritis of the knee. Diabetes Metab Syndr Obes 13:1491\u20131497. https:\/\/doi.org\/10.2147\/DMSO.S253147","journal-title":"Diabetes Metab Syndr Obes"},{"issue":"S1","key":"1062_CR52","doi-asserted-by":"publisher","first-page":"6395","DOI":"10.1182\/blood-2023-191117","volume":"142","author":"T Tashi","year":"2023","unstructured":"Tashi T, Bickel L (2023) Predictive value of elevated tryptase and mediator symptoms in systemic mastocytosis \u2013 A single centre experience. Blood 142(S1):6395. https:\/\/doi.org\/10.1182\/blood-2023-191117","journal-title":"Blood"},{"key":"1062_CR18","doi-asserted-by":"publisher","first-page":"11532","DOI":"10.3390\/ijms241411532","volume":"24","author":"M Tsuchiya","year":"2023","unstructured":"Tsuchiya M, Fukushima K, Takata K, \u00d4hashi Y, Uchiyama K, Takahira N, Saito H, Tsukada A, Inoue G, Takaso M, Uchida K (2023) Increase in TPSB2 and TPSD1 expression in synovium of hip osteoarthritis patients who are overweight. Int J Mol Sci 24:11532. https:\/\/doi.org\/10.3390\/ijms241411532","journal-title":"Int J Mol Sci"},{"issue":"1","key":"1062_CR16","doi-asserted-by":"publisher","first-page":"89","DOI":"10.5114\/pg.2021.104738","volume":"16","author":"EM Tulewicz-Marti","year":"2021","unstructured":"Tulewicz-Marti EM, Lewandowski K, Szczubelek M, Rydzewska G (2021) Management of anaemia in patients with inflammatory bowel disease - results of a questionnaire among Polish healthcare professionals. Przeg Gastroenterol 16(1):89\u201394. https:\/\/doi.org\/10.5114\/pg.2021.104738","journal-title":"Przeg Gastroenterol"},{"issue":"2","key":"1062_CR14","doi-asserted-by":"publisher","first-page":"151","DOI":"10.22141\/2308-2097.58.2.2024.609","volume":"58","author":"MI Tutchenko","year":"2024","unstructured":"Tutchenko MI, Rudyk DV, Besedinskyi MS, Chub SL, Nerushchenko YV (2024) Features of the course of hepatorenal syndrome in decompensated portal hypertension (case report). Gastroenterol (Ukraine) 58(2):151\u2013156. https:\/\/doi.org\/10.22141\/2308-2097.58.2.2024.609","journal-title":"Gastroenterol (Ukraine)"},{"issue":"S1","key":"1062_CR50","doi-asserted-by":"publisher","first-page":"1500","DOI":"10.1182\/blood-2021-148154","volume":"138","author":"F Vanderwert","year":"2021","unstructured":"Vanderwert F, Sordi B, Mannelli F, Palterer B, Gesullo F, Mecheri V, Santi R, Mannarelli C, Crupi F, Zanotti R, Grifoni F, Elena C, Parente R, Triggiani M, Lisa P, Almerigogna F, Guglielmelli P, Vannucchi A (2021) Screening for hereditary alpha-tryptasemia in subjects with systemic mastocytosis (SM) and non-SM mast cell activation symptoms. Blood 138(S1):1500. https:\/\/doi.org\/10.1182\/blood-2021-148154","journal-title":"Blood"},{"key":"1062_CR32","doi-asserted-by":"publisher","first-page":"258","DOI":"10.3238\/arztebl.m2023.0287","volume":"121","author":"D von Bubnoff","year":"2024","unstructured":"von Bubnoff D, Koch D, Stocker H, Ludwig R, Wortmann F, von Bubnoff N (2024) The clinical features of hereditary alpha-tryptasemia \u2013 Implications for interdisciplinary practice. Dtsch Arztebl Int 121:258\u2013264. https:\/\/doi.org\/10.3238\/arztebl.m2023.0287","journal-title":"Dtsch Arztebl Int"},{"key":"1062_CR8","doi-asserted-by":"publisher","first-page":"7021","DOI":"10.3390\/ijms24087021","volume":"24","author":"E Wo\u017aniak","year":"2023","unstructured":"Wo\u017aniak E, Owczarczyk-Saczonek A, Lange M, Czarny J, Wygonowska E, Placek W, Nedoszytko B (2023) The role of mast cells in the induction and maintenance of inflammation in selected skin diseases. Int J Mol Sci 24:7021. https:\/\/doi.org\/10.3390\/ijms24087021","journal-title":"Int J Mol Sci"},{"key":"1062_CR25","doi-asserted-by":"publisher","first-page":"4877","DOI":"10.1039\/d3an01174g","volume":"148","author":"Z Xu","year":"2023","unstructured":"Xu Z, Liu X, Zong C, Zhang Q, Gai H (2023) Homogeneous immunoassay utilizing fluorescence resonance energy transfer from quantum dots to tyramide dyes deposited on full immunocomplexes. Analyst 148:4877\u20134884. https:\/\/doi.org\/10.1039\/d3an01174g","journal-title":"Analyst"},{"key":"1062_CR51","doi-asserted-by":"publisher","first-page":"716786","DOI":"10.3389\/fped.2021.716786","volume":"9","author":"D Zama","year":"2021","unstructured":"Zama D, Muratore E, Giannetti A, Neri I, Conti F, Magini P, Ferrari S, Pession A (2021) Case report: Hereditary alpha tryptasemia in children: A paediatric case series and a brief overview of literature. Front Pediatr 9:716786. https:\/\/doi.org\/10.3389\/fped.2021.716786","journal-title":"Front Pediatr"},{"key":"1062_CR45","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1016\/j.scitotenv.2012.03.047","volume":"426","author":"A Zarrelli","year":"2012","unstructured":"Zarrelli A, DellaGreca M, Parolisi A, Iesce MR, Cermola F, Temussi F, Isidori M, Lavorgna M, Passananti M, Previtera L (2012) Chemical fate and genotoxic risk associated with hypochlorite treatment of nicotine. Sci Total Environ 426:132\u2013138. https:\/\/doi.org\/10.1016\/j.scitotenv.2012.03.047","journal-title":"Sci Total Environ"}],"container-title":["Journal of Applied Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-026-01062-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13353-026-01062-x","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-026-01062-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T06:27:32Z","timestamp":1777012052000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13353-026-01062-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,24]]},"references-count":60,"alternative-id":["1062"],"URL":"https:\/\/doi.org\/10.1007\/s13353-026-01062-x","relation":{},"ISSN":["1234-1983","2190-3883"],"issn-type":[{"value":"1234-1983","type":"print"},{"value":"2190-3883","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,24]]},"assertion":[{"value":"8 December 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 March 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 April 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 April 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no conflicts of interest to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}