Endo-ERN Publications Database
1009 publication(s) found matching the search criteria
Consensus on acromegaly therapeutic outcomes: an update
Author(s):
Melmed S, di Filippo L, Fleseriu M, Mercado M, Karavitaki N, Gurnell M, Salvatori R, Tsagarakis S, Losa M, Maffei P, Pereira AM, Geer EB, Katznelson L, van der Lely AJ, Bollerslev J, Esposito D, Webb SM, Zatelli MC, Valassi E, Neggers S, Chanson P, Ho KKY, Ioachimescu AG, Biller BMK, Samson SL, Kaiser UB, Schilbach K, Luque RM, Casanueva FF, Shimon I, Boguszewski CL, Biermasz N, Colao A, Pirchio R, Lamberts SWJ, Kadioglu P, Buchfelder M, Frara S, Chiloiro S, Petersenn S, Gadelha MR, Puig-Domingo M, Luger A, Brue T, Beckers A, Ferone D, Clemmons DR, Greenman Y, Marazuela M, Mortini P, Strasburger CJ, Giustina A
Affiliated Institution / ERN:
Amsterdam UMC ; University Hospital of Padova ; AOU Federico II - Naples ; AOU - Ferrara ; Erasmus MC: University Medical Center Rotterdam ; Evangelismos General Hospital ; Hôpital Bicêtre ; Oslo University Hospital ; San Raffaele hospital - Milan ; Sahlgrenska University Hospital ;
Condition / Disease:
Acromegaly
Publication:
Nature Reviews Endocrinology v21.11 p718-737
Year:
2025
ORPHAcode / other:
ORPHA963
Congenital adrenal hyperplasia
Author(s):
Auer MK, Nordenström A, Lajic S, Reisch N
Affiliated Institution / ERN:
Klinikum der Universität München ; Karolinska University Hospital ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
The Lancet v401.10372 p227-244
Year:
2023
ORPHAcode / other:
ORPHA418
EndoCompass Project: Research Roadmap for Growth Disorders
Author(s):
Gevers EF, Hokken-Koelega AC, Tauber M, Binder G, Bochukova EG, Bouret SG, Caixàs A, Davies JH, Dauber A, Edouard T, Eggermann T, Giabicani E, Netchine I, Nilsson O, Saravinovska K, van der Steen M, Tartaglia M, Tatton-Brown K, Temple IK, Yart A, Zenker M
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Universitätsklinikum Tübingen ;
Condition / Disease:
Oncogenic osteomalacia
Publication:
Hormone Research in Paediatrics p1-14
Year:
2025
ORPHAcode / other:
ORPH352540
DOI:
10.1159/000549204
Keywords:
Growth hormone,Imprinting disorders,Noonan syndrome,Prader-Willi syndrome,Short stature,Silver-Russell syndrome,Tall stature
rhPTH(1-84) for hypoparathyroidism: a randomized study of patient-reported outcomes
Author(s):
Brandi ML, Vokes T, Appelman-Dijkstra NM, Ayodele O, Decallonne B, de Jongh R, Díaz-Curiel M, Fraser W, Finkelman RD, Heck A, Ing SW, Kamenický P, Khan AA, Kovacs CS, Lapauw B, Leese G, Mantovani G, Martínez Díaz-Guerra G, Masi L, Melo M, Palermo A, Reddy NL, Rejnmark L, Tokareva E, Vantyghem M, Wang S, Warren M, Yan B
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; University Hospital Florence ; Aarhus University Hospital ; Ghent University Hospital ; Oslo University Hospital ; Amsterdam UMC ; UZ Leuven ;
Condition / Disease:
Hypoparathyroidism
Publication:
European Journal of Endocrinology v193.2 p310-319
Year:
2025
ORPHAcode / other:
ORPHA181405
DOI:
10.1093/ejendo/lvaf148
Keywords:
human parathyroid hormone treatment,hypoparathyroidism,patient-reported outcomes,rhPTH(1-84)
Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes
Author(s):
Carcavilla A, Pereda A, Miyado M, Fukami M, Kato F, Sengoku T, Ogata K, Clemente M, Valenzuela I, Mantovani G, Cappa M, Cavarzere P, Vado Y, González-Casado I, Ogata T, Perez de Nanclares G
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Pseudohypoparathyroidism, all known genes excluded (iPPSDx)
Publication:
European Journal of Endocrinology v192.4 p364-372
Year:
2025
ORPHAcode / other:
ORPHA97593
DOI:
10.1093/ejendo/lvaf006
Keywords:
GNAS gene,activating variants,hyponatraemia,inactivating variants,nephrogenic syndrome of inappropriate antidiuresis,pseudohypoparathyroidism
Epidemiological and clinical data from the European Lipodystrophy Registry
Author(s):
Ceccarini G, Vatier C, Akinci B, Belalem I, Broekema M, Csajbok E, Rosaria D'Apice M, Gambineri A, Heldt K, Heni M, Kleinendorst L, Krause K, Lattanzi G, Miehle K, Palladino L, Prodam F, Santini F, Santos Silva E, Savage DB, Sbraccia P, Scherer T, Sorkina E, Štotl I, Vantyghem M, Vigouroux C, Vorona E, Araújo-Vilar D, Wabitsch M, Nagel G, von Schnurbein J, Cerchetti C, Rotolo L, Sabia R, Ufer G, Beghini M, Dupuis H, Withers E, Stears A, Mosbah H, Lamothe S, Donadille B, Janmaat S, Romanisio M, Magno S, Gilio D, Novelli G
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Ulm University Medical Center ; AOU Policlinico Umberto I - Rome ;
Condition / Disease:
Familial partial lipodystrophy Type 1
Publication:
European Journal of Endocrinology v193.5 p585-603
Year:
2025
ORPHAcode / other:
ORPHA98306
DOI:
10.1093/ejendo/lvaf214
Keywords:
adipose tissue,chronic complications,leptin,lipodystrophy,metabolic diseases,registry
Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Paris, France, 20–21 May 2025
Author(s):
Vatier C, Araújo-Vilar D, Akinci B, Arnould T, Beaupère C, Bismuth E, Brown RJ, Ceccarini G, Collas P, Gambineri A, Gilio D, Halperin S, Janmaat S, Lamothe S, Lattanzi G, Maffei M, MacDougald OA, Mosbah H, Nobecourt E, Oral EA, Rochford J, Santini F, Schirmer EC, von Schnurbein J, Semple R, Tews D, Wabitsch M, Vantyghem M, Vigouroux C
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Ulm University Medical Center ; AOU-Bologna ;
Condition / Disease:
Familial partial lipodystrophy Type 1
Publication:
Annales d'Endocrinologie v86.5 p102432
Year:
2025
ORPHAcode / other:
ORPHA98306
DOI:
10.1016/j.ando.2025.102432
Keywords:
Adipocytes,Auto-immunity,Cardiovascular disease,Caveolin-1,Cellular senescence,Chromatin,Diet,Epidemiology,Laminopathies,Leptin,Lipidomic,Lipodystrophy,Metabolism,Mitochondria,Natural history,POLD1,Quality of life,Registry,Seipin,Therapies
Awakening not associated with an increased rate of cortisol secretion
Author(s):
Klaas S, Upton TJ, Zavala E, Lawton M, Bensing S, Berinder K, Botusan I, Grytaas M, Methlie P, Øksnes M, Russell G, Vassiliadi DA, Lightman SL
Affiliated Institution / ERN:
Evangelismos General Hospital ; Bergen Hospital Trust ; Karolinska University Hospital ;
Condition / Disease:
Cushing syndrome due to cortisol-producing adrenocortical adenoma
Publication:
Proceedings of the Royal Society B: Biological Sciences v292.2038
Year:
2025
ORPHAcode / other:
ORPHA647758
DOI:
10.1098/rspb.2024.1844
Keywords:
circadian rhythm,cortisol,cortisol awakening response,human,microdialysis,sleep
Hormone replacement in disorders of sex development, and long-term effects
Author(s):
Nordenström A, Mangone A, Mantovani G
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; Karolinska University Hospital ;
Condition / Disease:
CAIS
Publication:
Best Practice & Research Clinical Endocrinology & Metabolism v39.4 p102022
Year:
2025
ORPHAcode / other:
ORPHA99429
DOI:
10.1016/j.beem.2025.102022
Keywords:
DSD,bone mineral density,cardiovascular disease,disorders of sex development,long-term follow-up,multidisciplinary care,puberty treatment,sex hormone replacement
Mortality in craniopharyngiomas: Data from the last two decades
Author(s):
Ntali G, Shafi AM, Karavitaki N
Affiliated Institution / ERN:
Evangelismos General Hospital ;
Condition / Disease:
Craniopharyngioma
Publication:
Best Practice & Research Clinical Endocrinology & Metabolism v39.5 p102049
Year:
2025
ORPHAcode / other:
ORPHA54595
DOI:
10.1016/j.beem.2025.102049
Keywords:
SMR,craniopharyngioma,mortality,standardized mortality ratio,survival
Expert Consensus on the Primary Aldosteronism Severity Classification and its strategic application in indicating adrenal venous sampling
Author(s):
Murakami M, Naruse M, Kobayashi H, Parasiliti-Caprino M, Bioletto F, Brüdgam D, Stüfchen I, Reincke M, St-Jean M, Kraljevic I, Kastelan D, Nevalainen PI, Araujo-Castro M, Sukor N, Nijhoff MF, Matrozova J, Ragnarsson O, Shafigullina Z, Matikainen N, Markou A, Piaditis G, Izawa S, Katabami T, Ichijo T, Tanabe A, Tsuiki M, Kakutani M, Wada N, Masuda S, Bacca AV, Beuschlein F, Maiolino G, Falhammar H, Grytaas MA, Løvås K, Almeida MQ, Furnica RM, Puar T, Kmieć P, Masi S, Bourdeau I, Amar L, Dennedy MC, Fallo F, Deinum J, O’Toole S, Yamada T, Quinkler M, Lacroix A, Kocjan T
Affiliated Institution / ERN:
AO City of Health and Science - Turin ; Klinikum der Universität München ;
Condition / Disease:
Familial hyperaldosteronism type I
Publication:
European Journal of Endocrinology v193.1 p85-96
Year:
2025
ORPHAcode / other:
ORPHA403
DOI:
10.1093/ejendo/lvaf117
Keywords:
adrenal venous sampling,expert consensus,hypertension,primary aldosteronism,severity classification
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration
Author(s):
Groeneweg S, van Geest FS, Martín M, Dias M, Frazer J, Medina-Gomez C, Sterenborg RBTM, Wang H, Dolcetta-Capuzzo A, de Rooij LJ, Teumer A, Abaci A, van den Akker ELT, Ambegaonkar GP, Armour CM, Bacos I, Bakhtiani P, Barca D, Bauer AJ, van den Berg SAA, van den Berge A, Bertini E, van Beynum IM, Brunetti-Pierri N, Brunner D, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, Chesover A, Christian P, Coenen-van der Spek J, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dewey C, Dica A, Dimitri P, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi L, George B, Gevers EF, Greenup E, Hackenberg A, Halász Z, Heinrich B, Hurst AC, Huynh T, Isaza AR, Klosowska A, van der Knoop MM, Konrad D, Koolen DA, Krude H, Kulkarni A, Laemmle A, LaFranchi SH, Lawson-Yuen A, Lebl J, Leeuwenburgh S, Linder-Lucht M, López Martí A, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova JK, Mancilla EE, McCormick KL, McGowan A, Mericq V, Lora FM, Moran C, Muller KE, Nicol LE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Seckold R, Seven Menevse T, Simm P, Simon A, Singh Y, Spada M, Stals MAM, Stegenga MT, Stoupa A, Subramanian GM, Szeifert L, Tonduti D, Turan S, Vanderniet J, van der Walt A, Wémeau J, van Wermeskerken A, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Rivadeneira F, Meima ME, Marks DS, Nicola JP, Chen C, Medici M, Visser WE
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; CHU d'Angers ; Clinical Psychiatric Hospital "Alexandru Obregia" ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease:
Thyroid Hormone Signalling Disorders
Publication:
Nature Communications v16.1
Year:
2025
ORPHAcode / other:
ORPHA183631
Aortic Tissue Analysis in Turner Syndrome
Author(s):
Donadille B, Valent A, Amemiya K, Rive le Gouard N, Iserin L, Achouh P, Lecot-Connan T, Bruneval P, Siffroi J, Christin-Maitre S
Affiliated Institution / ERN:
APDP – Diabetes Portugal ;
Condition / Disease:
Chromosomal DSD
Publication:
Journal of the American College of Cardiology v80.13 p1284-1285
Year:
2022
ORPHAcode / other:
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study
Author(s):
Savarirayan R, Irving M, Harmatz P, Delgado B, Wilcox WR, Philips J, Owen N, Bacino CA, Tofts L, Charrow J, Polgreen LE, Hoover-Fong J, Arundel P, Ginebreda I, Saal HM, Basel D, Font RU, Ozono K, Bober MB, Cormier-Daire V, Le Quan Sang K, Baujat G, Alanay Y, Rutsch F, Hoernschemeyer D, Mohnike K, Mochizuki H, Tajima A, Kotani Y, Weaver DD, White KK, Army C, Larrimore K, Gregg K, Jeha G, Milligan C, Fisheleva E, Huntsman-Labed A, Day J
Affiliated Institution / ERN:
Universitätsklinikum Magdeburg ; ERN BOND ;
Condition / Disease:
Publication:
Genetics in Medicine v24.12 p2444-2452
Year:
2022
ORPHAcode / other:
DOI:
10.1016/j.gim.2022.08.015
Keywords:
Achondroplasia,Annualized growth velocity,Anthropometrics,Observational,Pediatrics
Efficacy of once-weekly tirzepatide versus once-daily insulin degludec on glycaemic control measured by continuous glucose monitoring in adults with type 2 diabetes (SURPASS-3 CGM): a substudy of the randomised, open-label, parallel-group, phase 3 SURPASS-3 trial
Author(s):
Battelino T, Bergenstal RM, Rodríguez A, Fernández Landó L, Bray R, Tong Z, Brown K
Affiliated Institution / ERN:
University Medical Centre Ljubljana ;
Condition / Disease:
Publication:
The Lancet Diabetes & Endocrinology v10.6 p407-417
Year:
2022
ORPHAcode / other:
Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease
Author(s):
Cavalcante IP, Berthon A, Fragoso MC, Reincke M, Stratakis CA, Ragazzon B, Bertherat J
Affiliated Institution / ERN:
APDP – Diabetes Portugal ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease:
Adrenal Cushing syndrome
Publication:
Nature Reviews Endocrinology v18.11 p699-711
Year:
2022
ORPHAcode / other:
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity
Author(s):
Ferrara UP, Tortora C, Rosano C, Assunto A, Rossi A, Pagano S, Falco M, Simeoli C, Ferrigno R, D’Amico A, Di Salvio D, Cangemi G, Pivonello R, Strisciuglio P, Melis D
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Publication:
Scientific Reports v12.1
Year:
2022
ORPHAcode / other:
Differences or Disorders of sex development in Boys: impact on fertility
Author(s):
Cavadias I, Touraine P, Ahmed SF
Affiliated Institution / ERN:
APDP – Diabetes Portugal ;
Condition / Disease:
Publication:
Annales d'Endocrinologie v83.3 p177-180
Year:
2022
ORPHAcode / other:
DOI:
10.1016/j.ando.2022.04.013
Keywords:
Androgen insensitivity,Androgens,Cryptorchidia,DSD,Disorders sexual development,Fertility,Hypospadias,PMDS,Testis
Measuring hyperphagia in patients with monogenic and syndromic obesity
Author(s):
Zorn S, von Schnurbein J, Schirmer M, Brandt S, Wabitsch M
Affiliated Institution / ERN:
Ulm University Medical Center ;
Condition / Disease:
Rare Genetic Obesity
Publication:
Appetite v178 p106161
Year:
2022
ORPHAcode / other:
Very low birth weight newborn with diabetes mellitus due to pancreas agenesis managed with insulin pump reservoir filled with undiluted insulin: 16-month follow-up
Author(s):
Zanfardino A, Piscopo A, Curto S, Schiaffini R, Rollato AS, Testa V, Miraglia del Giudice E, Barbetti F, Iafusco D
Affiliated Institution / ERN:
AOU University of Campania "Luigi Vanvitelli", Naples ;
Condition / Disease:
Publication:
Diabetes & Metabolic Syndrome: Clinical Research & Reviews v16.7 p102561
Year:
2022
ORPHAcode / other:
DOI:
10.1016/j.dsx.2022.102561
Keywords:
Diabetes in infancy,Hybrid closed loop systems,Insulin dilution,Insulin pump,Neonatal diabetes mellitus
KDM1A inactivation causes hereditary food-dependent Cushing syndrome
Author(s):
Vaczlavik A, Bouys L, Violon F, Giannone G, Jouinot A, Armignacco R, Cavalcante IP, Berthon A, Letouzé E, Vaduva P, Barat M, Bonnet F, Perlemoine K, Ribes C, Sibony M, North M, Espiard S, Emy P, Haissaguerre M, Tauveron I, Guignat L, Groussin L, Dousset B, Reincke M, Fragoso MC, Stratakis CA, Pasmant E, Libé R, Assié G, Ragazzon B, Bertherat J
Affiliated Institution / ERN:
APDP – Diabetes Portugal ;
Condition / Disease:
Adrenal Cushing syndrome
Publication:
Genetics in Medicine v24.2 p374-383
Year:
2022
ORPHAcode / other:
Assessment of efficacy and safety of volanesorsen for treatment of metabolic complications in patients with familial partial lipodystrophy: Results of the BROADEN study
Author(s):
Oral EA, Garg A, Tami J, Huang EA, O'Dea LS, Schmidt H, Tiulpakov A, Mertens A, Alexander VJ, Watts L, Hurh E, Witztum JL, Geary RS, Tsimikas S
Affiliated Institution / ERN:
UZ Leuven ;
Condition / Disease:
Genetic Lipodystrophy
Publication:
Journal of Clinical Lipidology v16.6 p833-849
Year:
2022
ORPHAcode / other:
DOI:
10.1016/j.jacl.2022.08.008
Keywords:
BROADEN,Diabetes mellitus,Familial partial lipodystrophy,Hypertriglyceridemia,Triglyceride,Volanesorsen
Ectopic craniopharyngiomas
Author(s):
Ntali G, Khan T, Karavitaki N, Tsermoulas G
Affiliated Institution / ERN:
Evangelismos General Hospital ;
Condition / Disease:
Publication:
Best Practice & Research Clinical Endocrinology & Metabolism v39.5 p102047
Year:
2025
ORPHAcode / other:
ORPHA54595
The clinical spectrum of adrenal ganglioneuromas extends from severe hypertension to an asymptomatic incidentaloma; two cases and mini review of literature
Author(s):
Kardalas E, Kyriakopoulos G, Antonopoulou V, Kyriakou A, Georgiadi S, Tzanela M, Ntali G
Affiliated Institution / ERN:
Evangelismos General Hospital ;
Condition / Disease:
Publication:
Hormones v24.4 p1199-1208
Year:
2025
ORPHAcode / other:
ORPHA1501
DOI:
10.1007/s42000-025-00676-w
Keywords:
Adrenal ganglioneuroma,Composite,Hypertension,Pheochromocytoma,Schwannian cell
Continuity of Care in Klinefelter Syndrome: Age-Adapted Modules for Standardized Clinical Data Collection (I-KS)
Author(s):
Grasemann C, Gravholt CH, Breen L, Aksglaede L, Lucas-Herald A, Alimussina M, Boettcher C, Wernsmann J, Bauer JJ, Bryce J, Carlomagno F, Hannema SE, Isidori A, Mazen I, Nordenstroem A, Ahmed SF
Affiliated Institution / ERN:
Copenhagen University Hospital, Rigshospitalet ; University Medical Center Mainz ; Katholisches Klinikum Bochum ; Aarhus University Hospital ; AOU Policlinico Umberto I - Rome ; Amsterdam UMC ; Karolinska University Hospital ;
Condition / Disease:
Maternal Androgens
Publication:
Endocrine Connections doi:10.1530/ec-25-0196
Year:
2025
ORPHAcode / other:
NO XY CODE
DOI:
10.1530/EC-25-0196
Keywords:
Klinefelter syndrome,age-adapted modules,life span,registry,transition
Long-term primary pharmacotherapy of giant prolactinomas: A comparison of different cabergoline dosages
Author(s):
Václav Jr. H, Manuela V, Michal K, Adéla K, Jana J, Mikuláš K, Pavel D, David N, Václav M, Martin M, Roman L, Václav H
Affiliated Institution / ERN:
General University Hospital in Prague ;
Condition / Disease:
Prolactinoma
Publication:
Journal of Clinical & Translational Endocrinology v41 p100418
Year:
2025
ORPHAcode / other:
ORPHA2965
Bone in Parathyroid Diseases Revisited: Evidence From Epidemiological, Surgical and New Drug Outcomes
Author(s):
Roumpou A, Palermo A, Tournis S, Hasenmajer V, Pasieka JL, Kaltsas G, Isidori A, Kassi E
Affiliated Institution / ERN:
General Hospital of Athens “LAIKO” ; AOU Policlinico Umberto I - Rome ;
Condition / Disease:
Hyperparathyroidism
Publication:
Endocrine Reviews v46.4 p576-620
Year:
2025
ORPHAcode / other:
ORPHA181408
DOI:
10.1210/endrev/bnaf010
Keywords:
bone,fracture,hyperparathyroidism,hypoparathyroidism,parathyroid disorders,pseudohypoparathyroidism
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
Author(s):
Haffner D, Emma F, Seefried L, Högler W, Javaid KM, Bockenhauer D, Bacchetta J, Eastwood D, Biosse Duplan M, Schnabel D, Wicart P, Ariceta G, Levtchenko E, Harvengt P, Kirchhoff M, Gardiner O, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenický P, Rejnmark L, Linglart A
Affiliated Institution / ERN:
Hôpital Bicêtre ; Aarhus University Hospital ; Karolinska University Hospital ; Charité Universitätsmedizin Berlin ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Hospices Civils de Lyon ; Hospital Universitari Vall d’Hebron ;
Condition / Disease:
X-linked hypophosphataemia
Publication:
Nature Reviews Nephrology v21.5 p330-354
Year:
2025
ORPHAcode / other:
ORPHA89936
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
Author(s):
Haffner D, Emma F, Seefried L, Högler W, Javaid KM, Bockenhauer D, Bacchetta J, Eastwood D, Biosse Duplan M, Schnabel D, Wicart P, Ariceta G, Levtchenko E, Harvengt P, Kirchhoff M, Gardiner O, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenický P, Rejnmark L, Linglart A
Affiliated Institution / ERN:
Aarhus University Hospital ; Hôpital Bicêtre ;
Condition / Disease:
X-linked hypophosphataemia
Publication:
Nature Reviews Nephrology v21.5 p330-354
Year:
2025
ORPHAcode / other:
ORPHA89936
Therapeutic potential of targeting the FLNA‐regulated Wee1 kinase in adrenocortical carcinomas
Author(s):
Esposito E, Marra G, Catalano R, Maioli S, Nozza E, Barbieri AM, Hantel C, Di Dalmazi G, Sigala S, Geginat J, Cassinotti E, Baldari L, Palmieri S, Mangone A, Berruti A, Ferrante E, Mantovani G, Peverelli E
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; AOU-Bologna ;
Condition / Disease:
Adrenocortical carcinoma
Publication:
International Journal of Cancer v156.6 p1256-1271
Year:
2025
ORPHAcode / other:
ORPHA1501
DOI:
10.1002/ijc.35239
Keywords:
Wee1,adavosertib,adrenocortical carcinomas,cell cycle regulation,filamin A,therapeutic target