Author(s): Žarković M, Attanasio R, Nagy EV, Negro R, Papini E, Perros P, Cohen CA, Akarsu E, Alevizaki M, Ayvaz G, Bednarczuk T, Berta E, Bodor M, Borissova AM, Boyanov M, Buffet C, Burlacu M, Ćirić J, Díez JJ, Dobnig H, Fadeyev V, Field BCT, Fliers E, Frølich JS, Führer D, Galofré JC, Hakala T, Jiskra J, Kopp P, Krebs M, Kršek M, Kužma M, Lantz M, Lazúrová I, Leenhardt L, Luchytskiy V, McGowan A, Melo M, Metso S, Moran C, Morgunova T, Mykola T, Beleslin BN, Niculescu DA, Perić B, Planck T, Poiana C, Puga FM, Robenshtok E, Rosselet P, Ruchala M, Riis KR, Shepelkevich A, Unuane D, Vardarli I, Visser WE, Vrionidou A, Younes YR, Yurenya E, Hegedüs L

Affiliated Institution / ERN: University Hospital Essen ;

Condition / Disease: hypothyroidism

Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other:

DOI: 10.3389/fendo.2023.1225202 Keywords: Europe,endocrinologists,healthcare delivery,hypothyroidism,questionnaire

Author(s): Fanis P, Neocleous V, Papapetrou I, Phylactou LA, Skordis N

Affiliated Institution / ERN: Cyprus Institute of Neurology and Genetics ;

Condition / Disease: Normosmic congenital hypogonadotropic hypogonadism

Publication: International Journal of Molecular Sciences v24.21 p15965 Year: 2023 ORPHAcode / other: ORPHA432

DOI: 10.3390/ijms242115965 Keywords: GnRH,GnRHR,HPG axis,gonadotropes,hypogonadotropic hypogonadism,pituitary

Author(s): Fanis P, Neocleous V, Papapetrou I, Phylactou LA, Skordis N

Affiliated Institution / ERN: Cyprus Institute of Neurology and Genetics ;

Condition / Disease: hypogonadotropic hypogonadism; pituitary

Publication: International Journal of Molecular Sciences v24.21 p15965 Year: 2023 ORPHAcode / other: ORPHA478; ORPHA432

DOI: 10.3390/ijms242115965 Keywords: GnRH,GnRHR,HPG axis,gonadotropes,hypogonadotropic hypogonadism,pituitary

Author(s): Giustina A, Biermasz N, Casanueva FF, Fleseriu M, Mortini P, Strasburger C, van der Lely AJ, Wass J, Melmed S, Banfi G, Barkan A, Beckers A, Bidlingmaier M, Boguszewski C, Brue T, Buchfelder M, Chanson P, Chiloiro S, Colao A, Coopmans E, Esposito D, Ferone D, Frara S, Gadelha M, Geer EB, Ghigo E, Greenman Y, Gurnell M, Ho K, Ioachimescu A, Johannsson G, Jørgensen JO, Kaiser UB, Karavitaki N, Katznelson L, Lamberts S, Losa M, Luger A, Luque R, Maffei P, Marazuela M, Neggers S, Pereira A, Persani L, Petersenn S, Reincke M, Salvatori R, Samson SN, Schilbach K, Shimon I, Tsagarakis S, Zatelli MC

Affiliated Institution / ERN: IRCCS Auxologico Italian Institute - Milan ;

Condition / Disease: Acromegaly

Publication: Pituitary doi:10.1007/s11102-023-01360-1 Year: 2023 ORPHAcode / other: ORPHA963

DOI: 10.1007/s11102-023-01360-1 Keywords: Acromegaly,Assays,Diagnosis,Growth hormone,Insulin-like growth factor I,Remission criteria

Author(s): Giustina A, Biermasz N, Casanueva FF, Fleseriu M, Mortini P, Strasburger C, van der Lely AJ, Wass J, Melmed S, Banfi G, Barkan A, Beckers A, Bidlingmaier M, Boguszewski C, Brue T, Buchfelder M, Chanson P, Chiloiro S, Colao A, Coopmans E, Esposito D, Ferone D, Frara S, Gadelha M, Geer EB, Ghigo E, Greenman Y, Gurnell M, Ho K, Ioachimescu A, Johannsson G, Jørgensen JO, Kaiser UB, Karavitaki N, Katznelson L, Lamberts S, Losa M, Luger A, Luque R, Maffei P, Marazuela M, Neggers S, Pereira A, Persani L, Petersenn S, Reincke M, Salvatori R, Samson SN, Schilbach K, Shimon I, Tsagarakis S, Zatelli MC

Affiliated Institution / ERN: AOU Federico II - Naples ; San Raffaele hospital - Milan ; Erasmus MC: University Medical Center Rotterdam ; Charité Universitätsmedizin Berlin ;

Condition / Disease: Acromegaly

Publication: Pituitary doi:10.1007/s11102-023-01360-1 Year: 2023 ORPHAcode / other: ORPHA963

DOI: 10.1007/s11102-023-01360-1 Keywords: Acromegaly,Assays,Diagnosis,Growth hormone,Insulin-like growth factor I,Remission criteria

Author(s): Schröder MAM, Greenald D, Lodewijk R, van Herwaarden AE, Span PN, Sweep FCGJ, Mitchell RT, Claahsen-van der Grinten HL

Affiliated Institution / ERN: Radboud University Medical Centre Nijmegen ;

Condition / Disease: Congenital Adrenal Hyperplasia

Publication: Endocrinology v164.12 Year: 2023 ORPHAcode / other: ORPHA418

DOI: 10.1210/endocr/bqad165 Keywords: adrenocorticotropic hormone,congenital adrenal hyperplasia,human fetal testis,testicular adrenal rest tumors

Author(s): Biester T, Eckert A, Becker M, Boettcher C, Golembowski S, Heidtmann B, Klinkert C, Müther S, Rami-Merhar B, Holl RW

Affiliated Institution / ERN: Centre Hospitalier de Luxembourg ;

Condition / Disease: diabetes type 1

Publication: Diabetes Technology & Therapeutics v25.11 p774-781 Year: 2023 ORPHAcode / other:

DOI: 10.1089/dia.2023.0283 Keywords: Automated insulin dosage,Basal rate,Continuous subcutaneous insulin infusion,Insulin pump,Type 1 diabetes

Author(s): David K, Devos G, Narinx N, Antonio L, Devlies W, Deboel L, Schollaert D, Eisenhauer A, Cavalier E, Vanderschueren D, Claessens F, Joniau S, Decallonne B

Affiliated Institution / ERN: UZ Leuven ;

Condition / Disease: PTH non-dependant hypercalcemia

Publication: eBioMedicine v97 p104817 Year: 2023 ORPHAcode / other: ORPHA68415; ORPHA405;

DOI: 10.1016/j.ebiom.2023.104817 Keywords: Androgen deprivation therapy,Androgen receptor signalling inhibitor,Bone turnover marker,Prostate cancer,Stable calcium isotope

Author(s): De Leo S, D'Elia S, Grani G, Dondi F, Bertagna F, Puxeddu E, Morelli S, Piovesan A, Nervo A, Zatelli MC, Gagliardi I, Samà MT, Aimaretti G, Crocetti U, Massa M, Deandrea M, Retta F, Pagano L, Rossi M, Solaroli E, Pezzullo L, Chiofalo MG, Pontecorvi A, Lombardi CP, Antonelli A, Patrizio A, Messuti I, Magri F, Spiazzi G, Ceresini G, Bruno R, Sparano C, Centanni M, Crescenzi A, Tallini G, Marotta V, Madeo B, Mian C, Filetti S, Durante C, Fugazzola L

Affiliated Institution / ERN: AOU - Ferrara ; University Hospital of Padova ; AOU-Bologna ;

Condition / Disease: Oncogenic osteomalacia

Publication: Thyroid® v33.11 p1318-1326 Year: 2023 ORPHAcode / other: ORPH352540

DOI: 10.1089/thy.2023.0052 Keywords: outcome,prospective,radioiodine,thyroid cancer,thyroiditis

Author(s): Araujo-Castro M, Rodríguez-Berrocal V, Dios E, Serramito R, Biagetti B, Bernabeu I

Affiliated Institution / ERN:

Condition / Disease: Pituitary adenomas

Publication: Endocrinología, Diabetes y Nutrición v70.9 p592-608 Year: 2023 ORPHAcode / other: ORPHA99408

DOI: 10.1016/j.endinu.2023.06.004 Keywords:

Author(s): Brahmachari D, Masood SN, Aziz U, Milenkovic T, Chawla M, Unnikrishnan AG, Ghosh S, Raposo J, Saboo B, Mohan V

Affiliated Institution / ERN: APDP – Diabetes Portugal ;

Condition / Disease: Glucagon

Publication: Journal of Diabetology v14.Supplement 1 pS8-S10 Year: 2023 ORPHAcode / other:

DOI: 10.4103/jod.jod_107_23 Keywords: Diabetes, endocrinology, glucagon, glucose homeostasis, historical research, hormone discovery, insulin, pancreatic hormones, therapeutic applications

Author(s): Araujo-Castro M, Berrocal VR, Dios E, Serramito R, Biagetti B, Bernabeu I

Affiliated Institution / ERN: Hospital Universitari Vall d’Hebron ;

Condition / Disease: Pituitary adenomas

Publication: Neurocirugía (English Edition) v34.6 p292-307 Year: 2023 ORPHAcode / other: ORPHA99408

DOI: 10.1016/j.neucie.2023.07.007 Keywords: Acromegalia,Acromegaly,Adenoma hipofisario no funcionante,Cirugía transesfenoidal,Cushing’s disease,Diabetes insipidus,Diabetes insípida,Déficit de vasopresina,Enfermedad de cushing,Hiponatremia,Hyponatremia,Non-functioning pituitary tumor,PITNET,Pituitary tumor,SIADH,Transsphenoidal surgery,Tumor hipofisario,Vasopressin deficiency

Author(s): Guerreiro V, Mendonça F, Urbano Ferreira H, Freitas P, Pereira J, Bernardes I, Pinheiro J, Guimarães T, Carvalho D

Affiliated Institution / ERN: Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ;

Condition / Disease: Pituitary adenoma

Publication: Endocrinology, Diabetes & Metabolism v6.6 Year: 2023 ORPHAcode / other: ORPHA99408

DOI: 10.1002/edm2.445 Keywords: adenomas,hypopituitarism,nonfunctioning,pituitary

Author(s): Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem M, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet M, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson J, Funalot B, Authier F, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J, Vanlander AV, Verloo P, Coucke PJ, Poppe B, Impens F, Mizushima N, Depienne C, Jéru I, Dermaut B

Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;

Condition / Disease: Genetic lipodystrophy

Publication: Nature Genetics v55.11 p1929-1940 Year: 2023 ORPHAcode / other: ORPHA98305

DOI: 10.1038/s41588-023-01535-3 Keywords:

Author(s): Fratzl-Zelman N, Linglart A, Bin K, Rauch F, Blouin S, Coutant R, Donzeau A

Affiliated Institution / ERN: CHU d'Angers ; Hôpital Bicêtre ;

Condition / Disease: osteogenesis imperfecta, hypophosphatasia

Publication: European Journal of Medical Genetics v66.11 p104856 Year: 2023 ORPHAcode / other: ORPHA436; ORPHA666;

DOI: 10.1016/j.ejmg.2023.104856 Keywords: Bone biopsy samples,Bone histomorphometry,Mineralization,Quantitative backscattered electron microscopy,Rare bone disorders,Therapy

Author(s): Aguilar-Riera C, Clemente M, González-Llorens N, Mogas E, Campos-Martorell A, Fàbregas A, Biagetti B, Vázquez E, Yeste D

Affiliated Institution / ERN: Hospital Universitari Vall d’Hebron ;

Condition / Disease: pituitary adenoma

Publication: Clinical Diabetes and Endocrinology v9.1 Year: 2023 ORPHAcode / other: ORPHA99408

DOI: 10.1186/s40842-023-00153-6 Keywords: Adolescent,Cabergoline,Child,Genetic analysis,Macroadenoma,Transsphenoidal

Author(s): Seefried L, Alzahrani A, Arango Sancho P, Bacchetta J, Crowley R, Emma F, Gibbins J, Grandone A, Javaid MK, Mindler G, Raimann A, Rothenbuhler A, Tucker I, Zeitlin L, Linglart A

Affiliated Institution / ERN: Hôpital Bicêtre ; AOU University of Campania "Luigi Vanvitelli", Naples ;

Condition / Disease: XLH

Publication: Orphanet Journal of Rare Diseases v18.S2 Year: 2023 ORPHAcode / other: ORPHA89936

DOI: 10.1186/s13023-023-02883-3 Keywords:

Author(s): Beckhaus J, Boekhoff S, Scheinemann K, Schilling FH, Fleischhack G, Binder G, Bison B, Pietsch T, Friedrich C, Müller HL

Affiliated Institution / ERN: Universitätsklinikum Tübingen ;

Condition / Disease: craniopharyngioma

Publication: Endocrine Connections v12.12 Year: 2023 ORPHAcode / other: ORPHA54595

DOI: 10.1530/ec-23-0294 Keywords: congenital,craniopharyngioma,irradiation,neurosurgery,quality of life

Author(s): Improda N, Capalbo D, Poloniato A, Garbetta G, Dituri F, Penta L, Aversa T, Sessa L, Vierucci F, Cozzolino M, Vigone MC, Tronconi GM, del Pistoia M, Lucaccioni L, Tuli G, Munarin J, Tessaris D, de Sanctis L, Salerno M

Affiliated Institution / ERN: San Raffaele hospital - Milan ;

Condition / Disease: Perinatal asphyxia and hypothermic treatment

Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other:

DOI: 10.3389/fendo.2023.1249700 Keywords: electrolytes disturbances,endocrine sequelae,glucose abnormalities,hypothermic treatment,perinatal asphyxia,stress adaptations

Author(s): de Sanctis L, Wasniewska M, Vigone MC

Affiliated Institution / ERN: San Raffaele hospital - Milan ;

Condition / Disease: Thyroid cancer

Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA146

DOI: 10.3389/fendo.2023.1303749 Keywords: ACR-TIRADS,EU-TIRADS,FNAB,del22q11 syndrome,phosphatase and tensin homolog deleted on chromosome 10 (PTEN),thyroid cancer,thyroid nodules,thyroiditis

Author(s): Del Sindaco G, Berkenou J, Pagnano A, Rothenbuhler A, Arosio M, Mantovani G, Linglart A

Affiliated Institution / ERN: Hôpital Bicêtre ; Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;

Condition / Disease: Inactivating PTH,PTHrP Signaling Disorders,Pseudohypoparathyroidism

Publication: The Journal of Clinical Endocrinology & Metabolism v108.11 p2961-2969 Year: 2023 ORPHAcode / other: ORPHA97593

DOI: 10.1210/clinem/dgad236 Keywords: ectopic ossifications,infancy,neonatal complications,newborns,pseudohypoparathyroidism

Author(s): Hoyer-Kuhn H, Eckert AJ, Binder G, Bonfig W, Dübbers A, Riedl S, Woelfle J, Dörr HG, Holl RW

Affiliated Institution / ERN: Universitätsklinikum Tübingen ; Klinikum Wels Grieskirchen ;

Condition / Disease: Congenital Adrenal Hyperplasia

Publication: The Journal of Clinical Endocrinology & Metabolism v108.11 pe1199-e1204 Year: 2023 ORPHAcode / other: ORPHA418

DOI: 10.1210/clinem/dgad307 Keywords: CYP21A2,congenital adrenal hyperplasia,near adult height,newborn screening

Author(s): Pelsma ICM, Fassnacht M, Tsagarakis S, Terzolo M, Tabarin A, Sahdev A, Newell-Price J, Marina L, Lorenz K, Bancos I, Arlt W, Dekkers OM

Affiliated Institution / ERN: Evangelismos General Hospital ;

Condition / Disease: Cushing syndrome

Publication: European Journal of Endocrinology v189.4 pS88-S101 Year: 2023 ORPHAcode / other: ORPHA647758; ORPHA189427; ORPHA314749;

DOI: 10.1093/ejendo/lvad134 Keywords: adrenal adenoma,comorbidities,cortisol,mild autonomous cortisol secretion,systematic review

Author(s): Schröder MAM, Neacşu M, Adriaansen BPH, Sweep FCGJ, Ahmed SF, Ali SR, Bachega TASS, Baronio F, Birkebæk NH, de Bruin C, Bonfig W, Bryce J, Clemente M, Cools M, Elsedfy H, Globa E, Guran T, Güven A, Amr NH, Janus D, Taube NL, Markosyan R, Miranda M, Poyrazoğlu Å, Rees A, Salerno M, Stancampiano MR, Vieites A, de Vries L, Yavas Abali Z, Span PN, Claahsen-van der Grinten HL

Affiliated Institution / ERN: Klinikum Wels Grieskirchen ; Aarhus University Hospital ; AOU Federico II - Naples ; Radboud University Medical Centre Nijmegen ; AOU-Bologna ;

Condition / Disease: Congenital adrenal hyperplasia

Publication: European Journal of Endocrinology v189.4 p460-468 Year: 2023 ORPHAcode / other: ORPHA418

DOI: 10.1093/ejendo/lvad143 Keywords: congenital adrenal hyperplasia,diagnosis,early childhood,testicular adrenal rest tumors

Author(s): García Gómez C, Navarro E, Alcázar V, López-Guzmán A, Arrieta F, Anda E, Biagetti B, Guerrero-Pérez F, Villabona C, de Assín Valverde AR, Lamas C, Lecumberri B, Rosado Sierra JA, Sastre J, Díez JJ, Iglesias P

Affiliated Institution / ERN: Hospital Universitari Vall d’Hebron ;

Condition / Disease: Antithyroid-Induced Agranulocytosis, Hyperthyroidism

Publication: Journal of Clinical Medicine v12.20 p6556 Year: 2023 ORPHAcode / other:

DOI: 10.3390/jcm12206556 Keywords: antithyroid drug-induced agranulocytosis (AIA),carbimazole (CBZ),methimazole (MMI),propylthiouracil (PTU)

Author(s): Ruggeri RM, Altieri B, Razzore P, Retta F, Sperti E, Scotto G, Brizzi MP, Zumstein L, Pia A, Lania A, Lavezzi E, Nappo G, Laffi A, Albertelli M, Boschetti M, Hasballa I, Veresani A, Prinzi N, Pusceddu S, Oldani S, Nichetti F, Modica R, Minotta R, Liccardi A, Cannavale G, Grossrubatscher EM, Tarsitano MG, Zamponi V, Zatelli MC, Zanata I, Mazzilli R, Appetecchia M, Davì MV, Guarnotta V, Giannetta E, La Salvia A, Fanciulli G, Malandrino P, Isidori AM, Colao A, Faggiano A

Affiliated Institution / ERN: AOU Federico II - Naples ; AOU polyclinic "G.Martino" of Messina ; IRCCS Ospedale Policlinico San Martino – Genova ; AOU Policlinico Umberto I - Rome ; AOU - Ferrara ;

Condition / Disease: Hereditary pheochromocytoma-paraganglioma

Publication: Journal of Endocrinological Investigation v47.4 p959-971 Year: 2023 ORPHAcode / other: ORPHA29072

DOI: 10.1007/s40618-023-02213-1 Keywords: Carcinoid syndrome,Gender,Gender medicine,Neuroendocrine neoplasm,Neuroendocrine tumors,Prognosis,Sex

Author(s): Feelders RA, Fleseriu M, Kadioglu P, Bex M, González-Devia D, Boguszewski CL, Yavuz DG, Patino H, Pedroncelli AM, Maamari R, Chattopadhyay A, Biller BMK, Pivonello R

Affiliated Institution / ERN: AOU Federico II - Naples ;

Condition / Disease: Cushing's disease

Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA96253

DOI: 10.3389/fendo.2023.1165681 Keywords: Cushing’s disease,cabergoline,hypercortisolism,pasireotide,somatostatin

Author(s): Murphy R, Colclough K, Pollin TI, Ikle JM, Svalastoga P, Maloney KA, Saint-Martin C, Molnes J, Tobias DK, Merino J, Ahmad A, Aiken C, Benham JL, Bodhini D, Clark AL, Colclough K, Corcoy R, Cromer SJ, Duan D, Felton JL, Francis EC, Gillard P, Gingras V, Gaillard R, Haider E, Hughes A, Ikle JM, Jacobsen LM, Kahkoska AR, Kettunen JLT, Kreienkamp RJ, Lim L, Männistö JME, Massey R, Mclennan N, Miller RG, Morieri ML, Most J, Naylor RN, Ozkan B, Patel KA, Pilla SJ, Prystupa K, Raghaven S, Rooney MR, Schön M, Semnani-Azad Z, Sevilla-Gonzalez M, Takele WW, Tam CH, Thuesen ACB, Tosur M, Wallace AS, Wang CC, Wong JJ, Yamamoto JM, Young K, Amouyal C, Andersen MK, Bonham MP, Chen M, Cheng F, Chikowore T, Chivers SC, Clemmensen C, Dabelea D, Dawed AY, Deutsch AJ, Dickens LT, DiMeglio LA, Dudenhöffer-Pfeifer M, Evans-Molina C, Fernández-Balsells MM, Fitipaldi H, Fitzpatrick SL, Gitelman SE, Goodarzi MO, Grieger JA, Guasch-Ferré M, Habibi N, Hansen T, Huang C, Harris-Kawano A, Ismail HM, Hoag B, Johnson RK, Jones AG, Koivula RW, Leong A, Leung GKW, Libman IM, Liu K, Long SA, Lowe WL, Morton RW, Motala AA, Onengut-Gumuscu S, Pankow JS, Pathirana M, Pazmino S, Perez D, Petrie JR, Powe CE, Quinteros A, Jain R, Ray D, Ried-Larsen M, Saeed Z, Santhakumar V, Kanbour S, Sarkar S, Monaco GSF, Scholtens DM, Selvin E, Sheu WH, Speake C, Stanislawski MA, Steenackers N, Steck AK, Stefan N, Støy J, Taylor R, Tye SC, Ukke GG, Urazbayeva M, Van der Schueren B, Vatier C, Wentworth JM, Hannah W, White SL, Yu G, Zhang Y, Zhou SJ, Beltrand J, Polak M, de Franco E, Flanagan SE, Maloney KA, McGovern A, Nakabuye M, Njølstad PR, Pomares-Millan H, Provenzano M, Zhang C, Zhu Y, Auh S, de Souza R, Fawcett AJ, Gruber C, Mekonnen EG, Mixter E, Sherifali D, Eckel RH, Nolan JJ, Philipson LH, Brown RJ, Billings LK, Boyle K, Costacou T, Dennis JM, Florez JC, Gloyn AL, Gomez MF, Gottlieb PA, Greeley SAW, Griffin K, Hattersley AT, Hirsch IB, Hivert M, Hood KK, Josefson JL, Kwak SH, Laffel LM, Lim SS, Loos RJF, Ma RCW, Mathieu C, Mathioudakis N, Meigs JB, Misra S, Mohan V, Murphy R, Oram R, Owen KR, Ozanne SE, Pearson ER, Perng W, Pollin TI, Pop-Busui R, Pratley RE, Redman LM, Redondo MJ, Reynolds RM, Semple RK, Sherr JL, Sims EK, Sweeting A, Tuomi T, Udler MS, Vesco KK, Vilsbøll T, Wagner R, Rich SS, Franks PW, Misra S, Aukrust I, de Franco E, Flanagan SE, Njølstad PR, Billings LK, Owen KR, Gloyn AL

Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;

Condition / Disease: monogenic diabetes

Publication: Communications Medicine v3.1 Year: 2023 ORPHAcode / other: ORPHA552

DOI: 10.1038/s43856-023-00369-8 Keywords:

Author(s): Ullrich S, Leidescher S, Feodorova Y, Thanisch K, Fini J, Kaspers B, Weber F, Markova B, Führer D, Romitti M, Krebs S, Blum H, Leonhardt H, Costagliola S, Heuer H, Solovei I

Affiliated Institution / ERN: University Hospital Essen ;

Condition / Disease: thyroglobulin gene

Publication: Frontiers in Cell and Developmental Biology v11 Year: 2023 ORPHAcode / other:

DOI: 10.3389/fcell.2023.1265407 Keywords: gene upregulation,thyroglobulin gene,thyroid hormones,transcription,transcription loop

Author(s): De Vincentis S, Del Sindaco G, Pagnano A, Brigante G, Moretti A, Zirilli L, Rochira V, Simoni M, Mantovani G, Madeo B

Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;

Condition / Disease: Inactivating PTH/PTHrP Signaling Disorders/Pseudohypoparathyroidism

Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA97593

DOI: 10.3389/fendo.2023.1268704 Keywords: hyperphosphatemia,hypocalcemia,hypoparathyroidism,mineral disorders,parathyroid dysfunctions