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유전성 구상적혈구증 (Hereditary Spherocytosis) — 참고문헌

모든 항목은 NCBI E-utilities(esearch + esummary, sort=relevance)로 실시간 조회되었습니다. 제목·저널·연도·저자·PMID 중 어느 것도 기억에서 작성되지 않았습니다. 각 항목의 의도(intent) 는 모델이 그 문헌에서 무엇을 가져왔는지를 밝힌 것이며, 검색 결과가 의도와 맞지 않는 경우가 한눈에 보이도록 함께 표기합니다. Rebuild with python3 mkrefs.py --refresh. 총 115편의 문헌이 18개 섹션에 정리되어 있습니다.

1. 질환 개관 · What hereditary spherocytosis is

  • Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update — Bolton-Maggs PH et al.. Br J Haematol 2012. PMID 22055020
    모델에서의 역할: Modern clinical picture, severity classification and management.
  • Hereditary spherocytosis — Iolascon A et al.. Transfus Clin Biol 2010. PMID 20655264
    모델에서의 역할: Epidemiology and the 1/2000 northern European prevalence the model assumes for its virtual population.
  • Hemolytic anemia — Dhaliwal G et al.. Am Fam Physician 2004. PMID 15202694
    모델에서의 역할: That the causal chain is vertical-linkage defect -> membrane loss -> spherocyte -> splenic destruction, which is the chain the model implements.
  • Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis — Eber SW et al.. J Pediatr 1990. PMID 2391596
    모델에서의 역할: Severity grading by haemoglobin, reticulocytes and bilirubin -- the mild/moderate/severe bands the model predicts into.
  • Hereditary pyropoikilocytosis. Clinical and laboratory analysis in eight infants and young children — DePalma L & Luban NL. Am J Dis Child 1993. PMID 8418610
    모델에서의 역할: Paediatric natural history and how the phenotype changes with age.
  • Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update — Bolton-Maggs PH et al.. Br J Haematol 2012. PMID 22055020
    모델에서의 역할: British Committee for Standards in Haematology guideline.

2. 유전자 · The genes, and what fraction of HS each explains

  • Ankyrin gene mutations in japanese patients with hereditary spherocytosis — Nakanishi H et al.. Int J Hematol 2001. PMID 11372755
    모델에서의 역할: ANK1 mutations as the commonest cause and the de novo rate.
  • A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin — Li S et al.. Ann Hematol 2022. PMID 35099593
    모델에서의 역할: SPTB / beta-spectrin defects.
  • Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice — Wang X et al.. Mol Med Rep 2019. PMID 30816434
    모델에서의 역할: SPTA1 / alpha-spectrin and the recessive severe phenotype.
  • Hereditary spherocytosis due to band 3 deficiency: 15 novel mutations in SLC4A1 — Van Zwieten R et al.. Am J Hematol 2013. PMID 23255290
    모델에서의 역할: SLC4A1 / band 3 deficiency -- the genotype the model predicts responds differently to splenectomy.
  • Protein 4.2: a complex linker — Satchwell TJ et al.. Blood Cells Mol Dis 2009. PMID 19269200
    모델에서의 역할: EPB42 / protein 4.2 deficiency and its Japanese enrichment.
  • Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients — Andolfo I et al.. Genes (Basel) 2021. PMID 34201899
    모델에서의 역할: Next-generation sequencing panels and the genotype distribution they reveal.
  • Hereditary elliptocytosis, spherocytosis and related disorders: consequences of a deficiency or a mutation of membrane skeletal proteins — Palek J. Blood Rev 1987. PMID 3332099
    모델에서의 역할: Spectrin content as a quantitative severity marker -- the basis of the model's fdef parameter.
  • The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing — Fan J et al.. J Hum Genet 2021. PMID 34140613
    모델에서의 역할: Genotype-phenotype correlation across the membrane protein defects.

3. 막 구조 · The vertical linkage and why losing it loses area

  • Oxygen regulates the band 3-ankyrin bridge in the human erythrocyte membrane — Stefanovic M et al.. Biochem J 2013. PMID 23013433
    모델에서의 역할: Ankyrin-1 as the bridge between beta-spectrin and band 3.
  • Transfer of band 3, the erythrocyte anion transporter, between phospholipid vesicles and cells — Newton AC et al.. Biochemistry 1983. PMID 6661430
    모델에서의 역할: Band 3 copy number per red cell -- the model's B0 parameter.
  • Biochemical analysis of potential sites for protein 4.1-mediated anchoring of the spectrin-actin skeleton to the erythrocyte membrane — Workman RF & Low PS. J Biol Chem 1998. PMID 9497338
    모델에서의 역할: The complete membrane skeleton architecture: junctional complex, protein 4.1R, actin, adducin.
  • Protein 4.2: a complex linker — Satchwell TJ et al.. Blood Cells Mol Dis 2009. PMID 19269200
    모델에서의 역할: Protein 4.2 stabilising the ankyrin-band 3 interaction.
  • A band 3-based macrocomplex of integral and peripheral proteins in the RBC membrane — Bruce LJ et al.. Blood 2003. PMID 12531814
    모델에서의 역할: The Rh/RhAG macrocomplex as a second vertical anchor.
  • Cell poking. Determination of the elastic area compressibility modulus of the erythrocyte membrane — Daily B et al.. Biophys J 1984. PMID 6722261
    모델에서의 역할: Membrane area incompressibility -- why V_sph is a hard ceiling and not a soft one.
  • Mechanics of diseased red blood cells in human spleen and consequences for hereditary blood disorders — Li H et al.. Proc Natl Acad Sci U S A 2018. PMID 30190436
    모델에서의 역할: Microvesiculation as the mechanism of surface area loss.
  • Splenectomy prolongs in vivo survival of erythrocytes differently in spectrin/ankyrin- and band 3-deficient hereditary spherocytosis — Reliene R et al.. Blood 2002. PMID 12200387
    모델에서의 역할: Band 3-containing vesicles released by spectrin/ankyrin-deficient cells -- the vesicle composition parameter.

4. 기하학 · The geometry: area, volume, and the minimum cylindrical diameter

  • Distribution of size and shape in populations of normal human red cells — Canham PB & Burton AC. Circ Res 1968. PMID 5639051
    모델에서의 역할: The original measurement of red cell size and shape distributions and the minimum cylindrical diameter -- the model's central formula.
  • Pathophysiological Associations and Measurement Techniques of Red Blood Cell Deformability — Liang M et al.. Biosensors (Basel) 2025. PMID 41002306
    모델에서의 역할: Surface area and volume of the normal human red cell.
  • Coil planet centrifugal and capillary tube centrifugal analysis of factors regulating erythrocyte osmotic fragility and deformability — Nagasawa T et al.. Jpn J Physiol 1982. PMID 7077891
    모델에서의 역할: Surface-to-volume ratio as the determinant of deformability and of osmotic fragility.
  • Rheologic properties of senescent erythrocytes: loss of surface area and volume with red blood cell age — Waugh RE et al.. Blood 1992. PMID 1536958
    모델에서의 역할: Loss of surface area AND volume with normal red cell age -- the Waugh numbers the normal arm is calibrated to.
  • Conclusions about osmotically inactive volume and osmotic fragility from a detailed erythrocyte model — Denysova O & Nitsche JM. J Theor Biol 2022. PMID 35051431
    모델에서의 역할: Osmotically inactive (haemoglobin) volume of the red cell.
  • Osmotic gradient ektacytometry: comprehensive characterization of red cell volume and surface maintenance — Clark MR et al.. Blood 1983. PMID 6831052
    모델에서의 역할: Ektacytometry and the osmotic gradient deformability profile (O_min, EI_max, O_hyper).
  • Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders — Llaudet-Planas E et al.. Int J Lab Hematol 2018. PMID 29024480
    모델에서의 역할: Direct measurement of red cell deformability in hereditary spherocytosis.

5. 비장 · The splenic filter: slits, cords, and transit

  • The human spleen; a histological study in splenectomy specimens embedded in methylmethacrylate — van Krieken JH et al.. Histopathology 1985. PMID 4040884
    모델에서의 역할: Anatomy of the splenic red pulp, the cords of Billroth and the sinus wall.
  • Erythrocyte flow through the interendothelial slits of the splenic venous sinus — Dao M et al.. Biomech Model Mechanobiol 2021. PMID 34535857
    모델에서의 역할: The interendothelial slit and its width -- the physical filter.
  • (no PubMed hit) — intent: Biophysics of a red cell squeezing through a spleen-like slit.
    query: red blood cell flow narrow slit spleen model
  • Release of red cells from the slowly-exchanging splenic pool after noradrenaline administration — Geiger HB et al.. Can J Physiol Pharmacol 1976. PMID 974876
    모델에서의 역할: Splenic transit times and the fast/slow (closed/open) circulation split.
  • Effects of an enlarged splenic erythrocyte pool in chronic lymphocytic leukaemia. Mechanism of erythrocyte sequestration in the spleen and liver — Egelund Christensen B. Scand J Haematol 1971. PMID 5094958
    모델에서의 역할: The size of the human splenic red cell pool.
  • Noninvasive measurement of blood flow and extraction fraction — Peters AM et al.. Nucl Med Commun 1987. PMID 3323961
    모델에서의 역할: Splenic blood flow as a fraction of cardiac output.
  • Physical mechanisms of red blood cell splenic filtration — Moreau A et al.. Proc Natl Acad Sci U S A 2023. PMID 37874856
    모델에서의 역할: Mechanical filtration and the physical basis of splenic red cell retention.
  • Hereditary spherocytosis and related disorders — Becker PS & Lux SE. Clin Haematol 1985. PMID 3886234
    모델에서의 역할: Splenic conditioning: red cells inside the spleen are the most spherocytic in the body.
  • (no PubMed hit) — intent: Metabolic environment of the cords: hypoxia, acidosis, glucose deprivation.
    query: splenic red pulp hypoxia acidosis metabolic stress erythrocyte
  • Assessment of splenic function — de Porto AP et al.. Eur J Clin Microbiol Infect Dis 2010. PMID 20853172
    모델에서의 역할: Pitting function of the spleen (Howell-Jolly bodies).

6. 청소 기전 · Two clearance mechanisms in one organ

  • Splenectomy prolongs in vivo survival of erythrocytes differently in spectrin/ankyrin- and band 3-deficient hereditary spherocytosis — Reliene R et al.. Blood 2002. PMID 12200387
    모델에서의 역할: Splenectomy prolongs survival differently in spectrin/ankyrin- versus band 3-deficient HS -- the model's central genotype prediction.
  • Naturally occurring anti-band 3 antibodies and red blood cell removal under physiological and pathological conditions — Pantaleo A et al.. Autoimmun Rev 2008. PMID 18558362
    모델에서의 역할: Naturally occurring anti-band-3 antibodies and the requirement for band 3 clustering.
  • Naturally occurring anti-band 3 antibodies and red blood cell removal under physiological and pathological conditions — Pantaleo A et al.. Autoimmun Rev 2008. PMID 18558362
    모델에서의 역할: Band 3 clustering as the senescent-cell signal.
  • Quantification of IgG anti-D bound to D-positive red cells infused into D-negative subjects after intramuscular injection of monoclonal anti-D — Kumpel BM & Judson PA. Transfus Med 1995. PMID 7655572
    모델에서의 역할: Red cell IgG quantification by flow cytometry.
  • Cell rigidity and shape override CD47's "self"-signaling in phagocytosis by hyperactivating myosin-II — Sosale NG et al.. Blood 2015. PMID 25411427
    모델에서의 역할: CD47-SIRPalpha as the 'don't eat me' signal on red cells.
  • Role of Eryptosis in Hemorrhagic Stroke — Fang M et al.. Front Mol Neurosci 2022. PMID 35966018
    모델에서의 역할: Phosphatidylserine exposure and eryptosis.
  • BACH1 regulates erythrophagocytosis and iron-recycling in β-thalassemia — Penglong T et al.. Genes Cells 2023. PMID 36565308
    모델에서의 역할: Red pulp macrophage biology and erythrophagocytosis.
  • Opsonic properties of C-reactive protein in vivo — Nakayama S et al.. J Immunol 1982. PMID 7077076
    모델에서의 역할: Kupffer cell clearance of opsonised red cells -- the arm that survives splenectomy.
  • Models for the red blood cell lifespan — Shrestha RP et al.. J Pharmacokinet Pharmacodyn 2016. PMID 27039311
    모델에서의 역할: Normal red cell lifespan and how it is measured.
  • Red cell membrane disorders — Narla J & Mohandas N. Int J Lab Hematol 2017. PMID 28447420
    모델에서의 역할: Red cell survival in hereditary spherocytosis before and after splenectomy.

7. 진단 검사 · Diagnostics, and what each one actually measures

  • Flow Cytometric Eosin-5'-Maleimide Test is a Sensitive Screen for Hereditary Spherocytosis — Chari PS & Prasad S. Indian J Hematol Blood Transfus 2018. PMID 30127559
    모델에서의 역할: EMA (eosin-5-maleimide) binding test performance and cut-off.
  • Eosin-5-maleimide binding to band 3 and Rh-related proteins forms the basis of a screening test for hereditary spherocytosis — King MJ et al.. Br J Haematol 2004. PMID 14675415
    모델에서의 역할: That EMA binds band 3 and the Rh proteins, i.e. reads membrane content rather than shape.
  • Utility of Cryohemolysis Test in the Diagnosis of Hereditary Spherocytosis — Dhanasekaran V et al.. Indian J Hematol Blood Transfus 2023. PMID 37304467
    모델에서의 역할: Osmotic fragility testing, its normal range and its limitations.
  • Comparison of a modified flow cytometry osmotic fragility test with the classical method for the diagnosis of hereditary spherocytosis — Shahal-Zimra Y et al.. Cytometry B Clin Cytom 2022. PMID 34528390
    모델에서의 역할: Incubated osmotic fragility and why ATP depletion exaggerates the defect.
  • Comparison of acidified glycerol lysis test, Pink test and osmotic fragility test in hereditary spherocytosis: effect of incubation — Bucx MJ et al.. Eur J Haematol 1988. PMID 3356239
    모델에서의 역할: The acidified glycerol lysis time test.
  • Utility of Cryohemolysis Test in the Diagnosis of Hereditary Spherocytosis — Dhanasekaran V et al.. Indian J Hematol Blood Transfus 2023. PMID 37304467
    모델에서의 역할: Cryohaemolysis test.
  • Overview on Hereditary Spherocytosis Diagnosis — Polizzi A et al.. Int J Lab Hematol 2025. PMID 39467036
    모델에서의 역할: MCHC and RDW as a CBC-only screen.
  • Clinical Diagnosis of Red Cell Membrane Disorders: Comparison of Osmotic Gradient Ektacytometry and Eosin Maleimide (EMA) Fluorescence Test for Red Cell Band 3 (AE1, SLC4A1) Content for Clinical Diagnosis — Zaidi AU et al.. Front Physiol 2020. PMID 32636758
    모델에서의 역할: Comparison of screening tests: EMA vs osmotic fragility vs ektacytometry.
  • ACVIM consensus statement on the diagnosis of immune-mediated hemolytic anemia in dogs and cats — Garden OA et al.. J Vet Intern Med 2019. PMID 30806491
    모델에서의 역할: Direct antiglobulin test negativity as the discriminator from autoimmune haemolytic anaemia.

8. 용혈 지표 · Haemolysis read-outs

  • Conjugated Hyperbilirubinemia — Tripathi N & Jialal I. ** 2026. PMID 32965843
    모델에서의 역할: Bilirubin production per gram of haemoglobin catabolised (the 34 mg constant).
  • Heme oxygenase-1/carbon monoxide as modulators of autophagy and inflammation — Ryter SW. Arch Biochem Biophys 2019. PMID 31704095
    모델에서의 역할: Haem oxygenase-1 and the haem degradation pathway.
  • End-tidal carbon monoxide and hemolysis — Tidmarsh GF et al.. J Perinatol 2014. PMID 24743136
    모델에서의 역할: End-tidal carbon monoxide as a direct measure of haemolytic rate.
  • Effect of interference from hemolysis, icterus and lipemia on routine pediatric clinical chemistry assays — Agarwal S et al.. Clin Chim Acta 2015. PMID 25128720
    모델에서의 역할: Haptoglobin consumption and its interpretation in extravascular haemolysis.
  • Pegcetacoplan versus Eculizumab in Paroxysmal Nocturnal Hemoglobinuria — Hillmen P et al.. N Engl J Med 2021. PMID 33730455
    모델에서의 역할: LDH in extravascular versus intravascular haemolysis.
  • Bilirubin glucuronidation revisited: proper assay conditions to estimate enzyme kinetics with recombinant UGT1A1 — Zhou J et al.. Drug Metab Dispos 2010. PMID 20668247
    모델에서의 역할: UGT1A1 kinetics and bilirubin conjugation capacity.

9. 담석과 길버트 증후군 · Pigment gallstones and UGT1A1

  • Do UGT1A1 and HMOX1 gene promoter polymorphisms increase the risk of hyperbilirubinemia and gallstones in patients with hereditary spherocytosis? — Warang P et al.. Ann Hematol 2015. PMID 24947795
    모델에서의 역할: Co-inherited Gilbert syndrome and the risk of gallstones in HS.
  • Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis — del Giudice EM et al.. Blood 1999. PMID 10498597
    모델에서의 역할: Prevalence and age distribution of gallstones in HS.
  • Carbohydrate diet-induced calcium bilirubinate sludge and pigment gallstones in the prairie dog — Conter RL et al.. J Surg Res 1986. PMID 3747492
    모델에서의 역할: Black pigment stone formation: calcium bilirubinate chemistry.
  • Beta-glucuronidase activity in the bile of gallstone patients both with and without duodenal diverticula — Skar V et al.. Scand J Gastroenterol 1989. PMID 2494696
    모델에서의 역할: Biliary beta-glucuronidase and deconjugation in the bile.
  • Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update — Bolton-Maggs PH et al.. Br J Haematol 2012. PMID 22055020
    모델에서의 역할: Whether to perform concurrent cholecystectomy at splenectomy.
  • Gilbert syndrome: the UGT1A1*28 promoter polymorphism as a biomarker of multifactorial diseases and drug metabolism — Gil J & Sąsiadek MM. Biomark Med 2012. PMID 22448797
    모델에서의 역할: UGT1A1*28 allele frequency and its effect on serum bilirubin.

10. 비장절제 · Splenectomy: what it does and does not fix

  • Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia — Englum BR et al.. J Pediatr Surg 2016. PMID 26613837
    모델에서의 역할: Haematological response to splenectomy in HS.
  • Hereditary spherocytosis — Bajracharya BL et al.. Kathmandu Univ Med J (KUMJ) 2004. PMID 15821383
    모델에서의 역할: That spherocytes and an abnormal osmotic fragility persist after splenectomy -- the model's 'cures the anaemia, not the cell' result.
  • Laparoscopic splenectomy in patients with hereditary spherocytosis: report on 12 consecutive cases — Vecchio R et al.. Updates Surg 2013. PMID 24129854
    모델에서의 역할: Indications for and timing of splenectomy in children.
  • Laparoscopic versus open splenectomy in children — Minkes RK et al.. J Pediatr Surg 2000. PMID 10813328
    모델에서의 역할: Laparoscopic versus open splenectomy outcomes.
  • Recurrence of hemolysis in hereditary spherocytosis: a case due to leukemic infiltration of an accessory spleen — Kies MS et al.. Mil Med 1981. PMID 6784002
    모델에서의 역할: Accessory spleens and splenectomy failure.

11. 부분 비장절제 · Partial splenectomy and remnant regrowth

  • Near-total splenectomy: a new technique for the management of hereditary spherocytosis — Stoehr GA et al.. Ann Surg 2005. PMID 15621989
    모델에서의 역할: Partial (subtotal) splenectomy: haematological benefit with retained splenic function.
  • Follow-up of partial splenectomy in children with hereditary spherocytosis — de Buys Roessingh AS et al.. J Pediatr Surg 2002. PMID 12378454
    모델에서의 역할: Long-term follow-up of partial splenectomy and regrowth of the remnant.
  • Laparoscopic partial splenectomy is safe and effective in patients with focal benign splenic lesion — Wang X et al.. Surg Endosc 2014. PMID 24939157
    모델에서의 역할: Splenic regrowth kinetics after subtotal splenectomy.
  • Symptomatic Recurrent Splenomegaly Following Partial Splenectomy in Patients With Hereditary Spherocytosis — Abdelhafeez AH et al.. Pediatr Blood Cancer 2026. PMID 41852320
    모델에서의 역할: Comparison of total versus partial splenectomy.

12. 비장절제 후 위험 · The price of removing the spleen

  • Overwhelming post-splenectomy infection (OPSI): a case report and review of the literature — Morgan TL & Tomich EB. J Emerg Med 2012. PMID 22726665
    모델에서의 역할: Overwhelming post-splenectomy infection: risk and organisms.
  • Asplenia and spleen hypofunction — Lenti MV et al.. Nat Rev Dis Primers 2022. PMID 36329079
    모델에서의 역할: Vaccination and antibiotic prophylaxis after splenectomy.
  • Risk factors of portal vein system thrombosis after splenectomy: a meta-analysis — Lin YK et al.. ANZ J Surg 2023. PMID 37519034
    모델에서의 역할: Venous and portal thrombosis after splenectomy.
  • [Splenic dysfunction in sickle cell disease: An update] — Tennenbaum J et al.. Rev Med Interne 2023. PMID 36710088
    모델에서의 역할: Pulmonary hypertension and arterial disease after splenectomy for haemolytic anaemia.
  • Long-term outcomes after pediatric splenectomy — Luoto TT et al.. Surgery 2016. PMID 26832988
    모델에서의 역할: Long-term cardiovascular and mortality outcomes of splenectomy.

13. 위기 · Aplastic, megaloblastic and haemolytic crises

  • Hemophagocytic lymphohistiocytosis associated with parvovirus B19-induced aplastic crisis in a hereditary spherocytosis patient: A case report and literature review — Kim KT et al.. Pediatr Hematol Oncol 2022. PMID 34369269
    모델에서의 역할: Parvovirus B19 aplastic crisis in hereditary spherocytosis.
  • Globoside Is Dispensable for Parvovirus B19 Entry but Essential at a Postentry Step for Productive Infection — Bieri J & Ros C. J Virol 2019. PMID 31341051
    모델에서의 역할: The P antigen (globoside) as the parvovirus B19 receptor on erythroid progenitors.
  • Pure red cell aplasia — Means RT Jr. Blood 2016. PMID 27881371
    모델에서의 역할: Duration of erythroid arrest in B19 infection -- the 7-10 day window the model uses.
  • Sickle Cell Disease — Adam MP et al.. ** 1993. PMID 20301551
    모델에서의 역할: Folate deficiency and megaloblastic crisis in chronic haemolysis.
  • EPB42-Related Hereditary Spherocytosis — Adam MP et al.. ** 1993. PMID 24624460
    모델에서의 역할: Haemolytic crisis with intercurrent infection.

14. 신생아기 · Neonatal hereditary spherocytosis

  • Neonatal hereditary spherocytosis: a case report — Coramusi C et al.. Ital J Pediatr 2025. PMID 40528189
    모델에서의 역할: Neonatal jaundice and anaemia as the presentation of HS.
  • Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis — Tchernia G et al.. Hematol J 2000. PMID 11920183
    모델에서의 역할: Late anaemia at 3-8 weeks and the physiological EPO nadir.
  • [Recombinant Human Erythropoietin (r-HuEPO) therapy in a newborn with hereditary spherocytosis] — Schiff M et al.. Arch Pediatr 2003. PMID 12818755
    모델에서의 역할: Erythropoietin treatment for the transfusion-requiring infant.
  • Neonatal Hyperbilirubinemia: Evaluation and Treatment — Par EJ et al.. Am Fam Physician 2023. PMID 37192079
    모델에서의 역할: Kernicterus risk and exchange transfusion thresholds.
  • Regulation of Intestinal UDP-Glucuronosyltransferase 1A1 by the Farnesoid X Receptor Agonist Obeticholic Acid Is Controlled by Constitutive Androstane Receptor through Intestinal Maturation — Weber AA et al.. Drug Metab Dispos 2021. PMID 33154041
    모델에서의 역할: UGT1A1 maturation in the newborn.

15. 수혈과 철 · Transfusion and iron

  • EPB42-Related Hereditary Spherocytosis — Adam MP et al.. ** 1993. PMID 24624460
    모델에서의 역할: Transfusion practice in severe HS.
  • Congenital dyserythropoietic anemias — Iolascon A et al.. Blood 2020. PMID 32702750
    모델에서의 역할: Iron loading in non-transfused chronic haemolysis.
  • The hepcidin regulator erythroferrone is a new member of the erythropoiesis-iron-bone circuitry — Castro-Mollo M et al.. Elife 2021. PMID 34002695
    모델에서의 역할: Erythroferrone suppression of hepcidin in expanded erythropoiesis.
  • Iron overload in hereditary spherocytosis: Are genetic factors the cause? — Donaty L et al.. Br J Haematol 2026. PMID 39632350
    모델에서의 역할: HFE co-inheritance and iron loading in HS.
  • Comparison of liver iron concentration calculated from R2 at 1.5 T and 3 T* — Pickles E et al.. Abdom Radiol (NY) 2023. PMID 36520162
    모델에서의 역할: Liver iron concentration measurement by MRI R2*.
  • Deferasirox: an update — Porter JB. Hemoglobin 2009. PMID 20001635
    모델에서의 역할: Deferasirox pharmacology and efficacy.

16. 미타피밧 · PKR activation as a non-surgical option

  • Mitapivat, a novel pyruvate kinase activator, for the treatment of hereditary hemolytic anemias — Al-Samkari H & van Beers EJ. Ther Adv Hematol 2021. PMID 34987744
    모델에서의 역할: Mitapivat in hereditary spherocytosis.
  • Global research landscape and thematic transitions in pyruvate kinase deficiency: a decadal bibliometric analysis (2015-2025) — Zhao W et al.. Front Med (Lausanne) 2026. PMID 42422835
    모델에서의 역할: Mitapivat mechanism: allosteric activation of pyruvate kinase R.
  • Phase 1 Single- and Multiple-Ascending-Dose Randomized Studies of the Safety, Pharmacokinetics, and Pharmacodynamics of AG-348, a First-in-Class Allosteric Activator of Pyruvate Kinase R, in Healthy Volunteers — Yang H et al.. Clin Pharmacol Drug Dev 2019. PMID 30091852
    모델에서의 역할: Mitapivat pharmacokinetics and dosing.
  • Mitapivat versus Placebo for Pyruvate Kinase Deficiency — Al-Samkari H et al.. N Engl J Med 2022. PMID 35417638
    모델에서의 역할: Mitapivat in pyruvate kinase deficiency (ACTIVATE) as the reference efficacy dataset.
  • Mitapivat for sickle cell disease and thalassemia — Pilo F & Angelucci E. Drugs Today (Barc) 2023. PMID 36847623
    모델에서의 역할: Mitapivat in thalassaemia and sickle cell disease -- evidence that PKR activation helps membranes it was not designed for.
  • Safety and efficacy of mitapivat in sickle cell disease (RISE UP): results from the phase 2 portion of a global, double-blind, randomised, placebo-controlled trial — Idowu M et al.. Lancet Haematol 2025. PMID 39644907
    모델에서의 역할: Red cell ATP and 2,3-DPG responses to PKR activation.
  • Chlorpromazine inhibits vesiculation, alters phosphoinositide turnover and changes deformability of ATP-depleted RBCs — Bütikofer P et al.. Blood 1989. PMID 2540856
    모델에서의 역할: ATP dependence of red cell membrane maintenance and shape.

17. 조혈 반응 · Erythropoiesis and the ceiling on compensation

  • Erythropoiesis and renal transplant pregnancy — Magee LA et al.. Clin Transplant 2000. PMID 10770417
    모델에서의 역할: The inverse log-linear relationship between haemoglobin and erythropoietin.
  • Congenital Erythropoietic Porphyria — Adam MP et al.. ** 1993. PMID 24027798
    모델에서의 역할: Maximal erythropoietic expansion in chronic haemolysis.
  • Characteristics of marrow production and reticulocyte maturation in normal man in response to anemia — Hillman RS. J Clin Invest 1969. PMID 5773082
    모델에서의 역할: Reticulocyte shift and the maturation-time correction.
  • Thoracic and paraspinal extramedullary hematopoiesis in a cat with chronic non-regenerative anemia — Bolfa P et al.. JFMS Open Rep 2018. PMID 30245843
    모델에서의 역할: Extramedullary haematopoiesis in chronic haemolytic anaemia.
  • Identification of erythroferrone as an erythroid regulator of iron metabolism — Kautz L et al.. Nat Genet 2014. PMID 24880340
    모델에서의 역할: Erythroferrone, EPO and the erythroid regulator of iron.

18. 모델링 방법 · QSP methods

  • Quantitative Systems Pharmacology and Physiologically-Based Pharmacokinetic Modeling With mrgsolve: A Hands-On Tutorial — Elmokadem A et al.. CPT Pharmacometrics Syst Pharmacol 2019. PMID 31652028
    모델에서의 역할: mrgsolve as an ODE/PK-PD simulation engine in R.
  • Better prediction of the local concentration-effect relationship: the role of physiologically based pharmacokinetics and quantitative systems pharmacology and toxicology in the evolution of model-informed drug discovery and development — Polak S et al.. Drug Discov Today 2019. PMID 31132414
    모델에서의 역할: Quantitative systems pharmacology in model-informed drug development.
  • [Phasic processes in the kinetics of the formed elements of the blood] — Verigo VV & Gauzer F. Kosm Biol Aviakosm Med 1986. PMID 3951177
    모델에서의 역할: Age-structured population models of red cell survival.
  • Population pharmacodynamic analysis of erythropoiesis in preterm infants for determining the anemia treatment potential of erythropoietin — Saleh MI et al.. Am J Physiol Regul Integr Comp Physiol 2013. PMID 23485870
    모델에서의 역할: Mechanistic modelling of erythropoiesis and anaemia therapy.
  • Curcumin on Human Health: A Comprehensive Systematic Review and Meta-Analysis of 103 Randomized Controlled Trials — Jafari A et al.. Phytother Res 2024. PMID 39478418
    모델에서의 역할: Good practice for QSP model credibility and verification.