Abreu AP, Trarbach EB, de Castro M, Frade Costa EM, Versiani B, Matias Baptista MT, Garmes HM, Mendonca BB, Latronico AC (2008) Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. J Clin Endocrinol Metab 93:4113–4118

Article  CAS  PubMed  Google Scholar 

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249

Article  CAS  PubMed  PubMed Central  Google Scholar 

Alver M, Palover M, Saar A, Lall K, Zekavat SM, Tonisson N, Leitsalu L, Reigo A, Nikopensius T, Ainla T, Kals M, Magi R, Gabriel SB, Eha J, Lander ES, Irs A, Philippakis A, Marandi T, Natarajan P, Metspalu A, Kathiresan S, Esko T (2019) Recall by genotype and cascade screening for Familial hypercholesterolemia in a population-based biobank from Estonia. Genet Med 21:1173–1180

Article  CAS  PubMed  Google Scholar 

American Diabetes Association Professional Practice, Committee (2024) 2. Diagnosis and classification of diabetes: standards of care in Diabetes-2024. Diabetes Care 47:S20–S42

Article  Google Scholar 

Amodeo G, Franchi S, Galimberti G, Riboldi B, Sacerdote P (2023a) ‘The Prokineticin System in Inflammatory Bowel Diseases: A Clinical and Preclinical Overview’. Biomedicines 11

Amodeo G, Galimberti G, Sacerdote P, Franchi S (2023b) Characterization of prokineticin system in Crohn’s disease pathophysiology and pain, and its modulation by alcohol abuse: A preclinical study. Biochim Biophys Acta Mol Basis Dis 1869:166791

Article  CAS  PubMed  Google Scholar 

Avbelj Stefanija M, Jeanpierre M, Sykiotis GP, Young J, Quinton R, Abreu AP, Plummer L, Au MG, Balasubramanian R, Dwyer AA, Florez JC, Cheetham T, Pearce SH, Purushothaman R, Schinzel A, Pugeat M, Jacobson-Dickman EE, Ten S, Latronico AC, Gusella JF, Dode C, Crowley WF Jr., Pitteloud N (2012) An ancient founder mutation in PROKR2 impairs human reproduction. Hum Mol Genet 21:4314–4324

Article  CAS  PubMed  PubMed Central  Google Scholar 

Balasubramanian R, Plummer L, Sidis Y, Pitteloud N, Martin C, Zhou QY, Crowley WF, Jr (2011) The puzzles of the prokineticin 2 pathway in human reproduction. Mol Cell Endocrinol 346:44–50

Article  CAS  PubMed  PubMed Central  Google Scholar 

Boutin NT, Schecter SB, Perez EF, Tchamitchian NS, Cerretani XR, Gainer VS, Lebo MS, Mahanta LM, Karlson EW and J. W. Smoller (2022) ‘The Evolution of a Large Biobank at Mass General Brigham’. J Pers Med 12

Brinkworth JF, Barreiro LB (2014) The contribution of natural selection to present-day susceptibility to chronic inflammatory and autoimmune disease. Curr Opin Immunol 31:66–78

Article  CAS  PubMed  PubMed Central  Google Scholar 

Corbin LJ, Tan VY, Hughes DA, Wade KH, Paul DS, Tansey KE, Butcher F, Dudbridge F, Howson JM, Jallow MW, John C, Kingston N, Lindgren CM, O’Donavan M, O’Rahilly S, Owen MJ, Palmer CNA, Pearson ER, Scott RA, van Heel DA, Whittaker J, Frayling T, Tobin MD, Wain LV, Smith GD, Evans DM, Karpe F, McCarthy MI, Danesh J, Franks PW, Timpson NJ (2018) Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference. Nat Commun 9:711

Article  PubMed  PubMed Central  Google Scholar 

Cox KH, Oliveira LMB, Plummer L, Corbin B, Gardella T, Balasubramanian R, Crowley WF (2018) Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency. Hum Mol Genet 27:338–350

Article  CAS  PubMed  Google Scholar 

Dode C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A, Morgan G, Murat A, Toublanc JE, Wolczynski S, Delpech M, Petit C, Young J, Hardelin JP (2006) Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet 2:e175

Article  PubMed  PubMed Central  Google Scholar 

Frazer J, Notin P, Dias M, Gomez A, Min JK, Brock K, Gal Y and D. S. Marks (2021) ‘Disease variant prediction with deep generative models of evolutionary data’. Nature 599:91–95

Gardiner JV, Bataveljic A, Patel NA, Bewick GA, Roy D, Campbell D, Greenwood HC, Murphy KG, Hameed S, Jethwa PH, Ebling FJ, Vickers SP, Cheetham S, Ghatei MA, Bloom SR, Dhillo WS (2010) Prokineticin 2 is a hypothalamic neuropeptide that potently inhibits food intake. Diabetes 59:397–406

Article  CAS  PubMed  Google Scholar 

Hamilton CM, Strader LC, Pratt JG, Maiese D, Hendershot T, Kwok RK, Hammond JA, Huggins W, Jackman D, Pan H, Nettles DS, Beaty TH, Farrer LA, Kraft P, Marazita ML, Ordovas JM, Pato CN, Spitz MR, Wagener D, Williams M, Junkins HA, Harlan WR, Ramos EM, Haines J (2011) The phenx toolkit: get the most from your measures. Am J Epidemiol 174:253–260

Article  PubMed  PubMed Central  Google Scholar 

Han L, Maciejewski M, Brockel C, Afzelius L, Altman RB (2018) Mendelian disease associations reveal novel insights into inflammatory bowel disease. Inflamm Bowel Dis 24:471–481

Article  PubMed  PubMed Central  Google Scholar 

Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D, Cannon-Albright LA, Teerlink CC, Stanford JL, Isaacs WB, Xu J, Cooney KA, Lange EM, Schleutker J, Carpten JD, Powell IJ, Cussenot O, Cancel-Tassin G, Giles GG, MacInnis RJ, Maier C, Hsieh CL, Wiklund F, Catalona WJ, Foulkes WD, Mandal D, Eeles RA, Kote-Jarai Z, Bustamante CD, Schaid DJ, Hastie T, Ostrander EA, Bailey-Wilson JE, Radivojac P, Thibodeau SN, Whittemore AS, Sieh W (2016) REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet 99:877–885

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ionita-Laza I, McCallum K, Xu B, Buxbaum JD (2016) A spectral approach integrating functional genomic annotations for coding and noncoding variants. Nat Genet 48:214–220

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K, Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z, Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN, Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A, Boucher G, Brand S, Buning C, Cohain A, Cichon S, D’Amato M, De Jong D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR, Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J, Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH, Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W, Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ, Zeissig S, Zhang B, Zhang CK, Zhao H, Silverberg IBD, Annese V, Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, J. D., Rioux EE, Schadt MJ, Daly A, Franke M. Parkes, S. Vermeire, J. C. Barrett, and J. H. Cho (2012) ‘Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease’. Nature 491:119– 24

Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfoldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O’Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME (2020) Nature 581:434–443 ‘The mutational constraint spectrum quantified from variation in 141,456 humans’

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kircher M, Witten DM, Jain P, O’Roak BJ, Cooper GM, Shendure J (2014) A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46:310–315

Article  CAS  PubMed  PubMed Central  Google Scholar 

Laitinen EM, Vaaralahti K, Tommiska J, Eklund E, Tervaniemi M, Valanne L, Raivio T (2011) Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland. Orphanet J Rare Dis 6:41

Article  PubMed  PubMed Central  Google Scholar 

Lattanzi R, Maftei D, Fullone MR, Miele R (2021) Trypanosoma Cruzi trans-sialidase induces STAT3 and ERK activation by prokineticin receptor 2 binding. Cell Biochem Funct 39:326–334

Article  CAS  PubMed  Google Scholar 

Levy JC, Matthews DR, Hermans MP (1998) Correct homeostasis model assessment (HOMA) evaluation uses the computer program. Diabetes Care 21:2191–2192

Article  CAS  PubMed  Google Scholar 

Li M, Bullock CM, Knauer DJ, Ehlert FJ, Zhou QY (2001) Identification of two prokineticin cDNAs: Recombinant proteins potently contract Gastrointestinal smooth muscle. Mol Pharmacol 59:692–698

Article  CAS  PubMed  Google Scholar 

Libri DV, Kleinau G, Vezzoli V, Busnelli M, Guizzardi F, Sinisi AA, Pincelli AI, Mancini A, Russo G, Beck-Peccoz P, Loche S, Crivellaro C, Maghnie M, Krausz C, Persani L, Bonomi M, Hypogonadism Italian Study Group on Idiopathic Central (2014) Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways. J Clin Endocrinol Metab 99:E458–E463

Article  CAS  PubMed  Google Scholar 

Martin C, Balasubramanian R, Dwyer AA, Au MG, Sidis Y, Kaiser UB, Seminara SB, Pitteloud N, Zhou QY, Crowley WF, Jr (2011) The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations. Endocr Rev 32:225–246

Article  CAS  PubMed  Google Scholar 

Matsumoto S, Yamazaki C, Masumoto KH, Nagano M, Naito M, Soga T, Hiyama H, Matsumoto M, Takasaki J, Kamohara M, Matsuo A, Ishii H, Kobori M, Katoh M, Matsushime H, Furuichi K, Shigeyoshi Y (2006) Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2. Proc Natl Acad Sci U S A 103:4140–4145

Article  CAS  PubMed  PubMed Central