Genetics and Genomics of Rare and Complex Diseases

Summary of activities

The group is multidisciplinary, highly translational in nature and it plays a key role in clinical activities, particularly in the diagnosis and prevention of genetic diseases, as well as in the development of research lines across a wide range of rare diseases. Through close collaboration with other IIS-FJD research groups, it contributes to the translation of advances in both rare and common genetic disorders into clinical practice. In addition, the group is engaged in the development and validation of diagnostic techniques and algorithms, as well as new therapeutic and preventive strategies aimed at providing comprehensive care for patients with genetic diseases.

Contributions to society

Guidelines/Recommendations:

• Rivolta C, Celik E, Kamdar D, Cancellieri F, Kaminska K, Ullah M, Barberán-Martínez P, Bouckaert M, Cortón M, Delanote E, Fernández-Caballero L, García García G, Holtes LK, Karali M, Lopez I, Peter VG, Schneider N, Vincke L, Ayuso C, Banfi S, Bocquet B, Coppieters F, Cremers FPM, Inglehearn CF, Iwata T, Kalatzis V, Koenekoop RK, Millán JM, Sharon D, Toomes C, Quinodoz M. RetiGene, a comprehensive gene atlas for inherited retinal diseases. Am J Hum Genet. 2025 Oct 2; 112(10):2253-2265. doi: 10.1016/j.ajhg.2025.08.017. Epub 2025 Sep 16. PMCID: PMC12696501.PMID: 40961941.
• Lazcoz Moratinos G, Nicolás Jiménez P, Ayuso C. Regulación de los hallazgos secundarios e incidentales derivados del análisis genético: desde el ámbito clínico hasta el Espacio Europeo de Datos de Salud. Rev Bio y Der UB. 2025, 63:88-106, DOI 10.1344/rbd2025.63.47664.

Activities for patient associations, secondary school students and the general public:

• Building DNA. International Day of Women and Girls in Science (Fundación Jiménez Díaz University Hospital).
• Decoding the Code. International Day of Women and Girls in Science (Fundación Jiménez Díaz University Hospital).
• Variability in KBG Syndrome Regarding Clinical Presentation and Severity of Manifestations. KBG Spain Congress.
• Podcast "The Science of the Singular". Patient Participation in Research. Sant Joan de Déu Research Foundation.
• Round Table: ONCE Foundation for Low Vision. ONCE.
• Extended Mind: To Infinity and Beyond? Philosophy and Health.
• Preimplantation Genetic Diagnosis of Genetic Diseases. Fanconi Anaemia Foundation Congress.
• Is Personalised Medicine Personal? Scientific Outreach Series "Science with Chocolate".
• Approaches to the Genetic Diagnosis of Rare Neurological Diseases. Families Meeting, Purple Warriors Association 2025.
• Integration of Clinical and Genomic Data for the Study and Management of Patients with Rare Diseases. Families Meeting, Purple Warriors Association 2025.
• What Is Bioinformatics? Discover How Programming Helps Us Study Diseases! Science and Innovation Week.
• Podcast "Retina: Present and Future". Retina Podcast Channel, Retina Murcia Association.
• Advances in Assisted Reproduction: PGT. Charcot-Marie-Tooth Conference. ONCE Foundation.
• Research in the 21^st Century: Personalised Medicine in Hereditary Cancer. Coffee, Pastries and Science Meetings.
• Bringing Science Closer to Schools. Research and Drug Development in Rare Diseases (Fundación Jiménez Díaz University Hospital).

Scientific Committees: FARPE Scientific Committee; Retina International Scientific Committee; FEDER Good Governance Committee; Purple Warriors Scientific Committee.

Advisory Boards: Choroideremia Research Foundation, DGenes, Incontinentia Pigmenti and Aniridia-Europe Association, Spanish Aniridia Association, AccesAccess de Luz Association, and FEDER.

Carmen Ayuso is member of the Spanish Ministry of Health Committee for the Genetics and Genomics Services Portfolio of the National Health System.

Almudena Ávila-Fernández is member of the Spanish Ministry of Health Committee for the Nephrology Services Portfolio.

Isabel Lorda, Ana Bustamante and Carmen Ayuso are members of the National Commission on Assisted Human Reproduction (CNRHA) of the Spanish Ministry of Health.

Collaborations

INTERNATIONAL CONSORTIA AND PROJECTS: Beyond 1 Million Genomes (ELSI, WP7), ERDC, Aniridia-Net Cost Action, Optic Atrophy-OPA8, GoOD.2) CIMBA (Consortium of Investigators of Modifiers of BRCA1/2), MERGE (Male Breast Cancer Genetics Consortium). Proyectos Internacionales: NEXOME (Rivolta Lausanne University). WGS Easigenomics. Otras: UCL, Oxford-University, INSERM, Semmelweis University, Hungary, EMQN (European Molecular Quality Network). ProgRet (Nº Proyecto: 101120562), Aristos.

NATIONAL CONSORTIA: IMPaCT-Genómica 2 (Co-Coordinator; Project No. PMPER24/00002), IMPaCT-Data, IMPaCT Vuscan, TransBioNet, GEICAM (Spanish Breast Cancer Research Group), CLASSIFI_ER, and CIBERER Working Groups: Bioinformatics (P. Mínguez), RNA Therapies (C. Ayuso), RNA-Seq (C. Ayuso), Secondary Genomic Findings (C. Ayuso), Epi-ENOD, Epigenomics (B. Almoguera), and Newborn Screening. SpadaHC (Spanish Variant Database for Hereditary Cancer).

COLLABORATIONS WITH OTHER IIS-FJD GROUPS: Nephrology and Hypertension, Vascular Disease and Diabetes; Medical and Surgical Innovation; Advanced Therapies; Preventive Medicine, Public Health and Primary Care; Epidemiology and Biostatistics Unit; Pathology; Rheumatology and Bone Metabolism; Innovation in Ophthalmology; Medical Oncology; Research in New Therapies; Haematology; Infectious Diseases and Tropical Medicine; Information Systems; Allergy and Immunology; Microbiology; Mitochondrial Calcium Signalling; Neurology; and Lipid Disorders: Clinical and Experimental Research (Adults and Children).

PhD Theses

Genética-02

List of publications

Dual Action of Dipyridamole in Experimental Rheumatoid Arthritis: Suppression of Joint Inflammation and Upregulation of Muscle Anabolism via Adenosine and AMPK pathways.

Marco-Bonilla M, Fresnadillo M, Sanchez-Platero I, de la Riva-Bueno M, Huete-Toral F, Carracedo G, Conde C, Benitez Y, Minguez P, Cifuentes SC, Rams J, Herrero-Beaumont G, Largo R, Mediero A.

Arthritis Rheumatol. 2025 Dec 29.

PMID: 41466573

FI: 10,9

http://dx.doi.org/10.1002/art.70047

Uncovering mirnomes of patients with interstitial lung diseases and an underlying autoimmune process.

Sánchez-Pernaute O, Benítez Y, Vadillo Font C, Nieto MA, Cebrián L, López-Muñiz B, Romero-Bueno FI, Godoy H, Laporta R, Del Pozo Abeijón MV, Abásolo Alcázar L, Mínguez P, Rodríguez Nieto MJ.

Respir Res. 2025 Dec 05.

PMID: 41350880

FI: 5

http://dx.doi.org/10.1186/s12931-025-03392-6

Gene expression study in the siRNA based aniridia cell model and in primary aniridia limbal epithelial cells following duloxetine and ritanserin treatment.

Suiwal S, Stachon T, Li Z, Corton M, Nastaranpour M, Chai N, Amini M, Seitz B, Fries FN, Tschernig T, Szentmáry N.

PLoS One. 2025.20(6):e0324829.

PMID: 40493651

FI: 2,6

http://dx.doi.org/10.1371/journal.pone.0324829

Hyperinflammation and Blindness. Screening for ROSAH Syndrome.

Tornero-Romero F, Sánchez-Hernandez R, Cantero-Del Olmo L, Saravia-Moya A, Gonzalez de Rivera-Utrera M, Sánchez-Barbero AI, Carreño-Salas E.

Eur J Case Rep Intern Med. 2025.12(4):004989.

PMID: 40270650

FI: 0

http://dx.doi.org/10.12890/2025_004989

Late-Onset, Slowly Progressive Pure Cerebellar Ataxia Associated with a Homozygous Missense Variant in PNPLA6.

Querejeta-Coma A, Avila-Fernandez A, Santos Sánchez de Las Matas L, Arteche-Lopez A, Trujillo-Tiebas MJ, Tahsin-Swafiri S, Ordás-Bandera CM.

Mov Disord Clin Pract. 2025 Nov 29.

PMID: 41316868

FI: 2,7

http://dx.doi.org/10.1002/mdc3.70460

Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.

Barnes DR, Tyrer JP, Dennis J, Leslie G, Bolla MK, Lush M, Aeilts AM, Aittomäki K, Andrieu N, Andrulis IL, Anton-Culver H, Arason A, Arun BK, Balmaña J, Bandera EV, Barkardottir RB, Berger LPV, Berrington de Gonzalez A, Berthet P, Białkowska K, Bjørge L, Blanco AM, Blok MJ, Bobolis KA, Bogdanova NV, Brenton JD, Butz H, Buys SS, Caligo MA, Campbell I, Castillo C, Claes KBM, Colonna SV, Cook LS, Daly MB, Dansonka-Mieszkowska A, de la Hoya M, deFazio A, DePersia A, Ding YC, Doherty JA, Domchek SM, Dörk T, Einbeigi Z, Engel C, Evans DG, Foretova L, Fortner RT, Fostira F, Foti MC, Friedman E, Frone MN, Ganz PA, Gentry-Maharaj A, Glendon G, Godwin AK, González-Neira A, Greene MH, Gronwald J, Guerrieri-Gonzaga A, Hamann U, Hansen TVO, Harris HR, Hauke J, Heitz F, Hogervorst FBL, Hooning MJ, Hopper JL, Huff CD, Huntsman DG, Imyanitov EN, Izatt L, Jakubowska A, James PA, Janavicius R, John EM, Kar S, Karlan BY, Kennedy CJ, Kiemeney LALM, Konstantopoulou I, Kupryjanczyk J, Laitman Y, Lavie O, Lawrenson K, Lester J, Lesueur F, Lopez-Pleguezuelos C, Mai PL, Manoukian S, May T, McNeish IA, Menon U, Milne RL, Modugno F, Mongiovi JM, Montagna M, Moysich KB, Neuhausen SL, Nielsen FC, Noguès C, Oláh E, Olopade OI, Osorio A, Papi L, Pathak H, Pearce CL, Pedersen IS, Peixoto A, Pejovic T, Peng PC, Peshkin BN, Peterlongo P, Powell CB, Prokofyeva D, Pujana MA, Radice P, Rashid MU, Rennert G, Richenberg G, Sandler DP, Sasamoto N, Setiawan VW, Sharma P, Sieh W, Singer CF, Snape K, Sokolenko AP, Soucy P, Southey MC, Stoppa-Lyonnet D, Sutphen R, Sutter C, Tan YY, Teixeira MR, Terry KL, Thomsen LCV, Tischkowitz M, Toland AE, Van Gorp T, Vega A, Velez Edwards DR, Webb PM, Weitzel JN, Wentzensen N, Whittemore AS, Winham SJ, Wu AH, Yadav S, Yu Y, Ziogas A, Berchuck A, Couch FJ, Goode EL, Goodman MT, Monteiro AN, Offit K, Ramus SJ, Risch HA, Schildkraut JM, Thomassen M, Simard J, Easton DF, Jones MR, Chenevix-Trench G, Gayther SA, Antoniou AC, Pharoah PDP.

NPJ Genom Med. 2025 Nov 20.10(1):73.

PMID: 41266372

FI: 4,8

http://dx.doi.org/10.1038/s41525-025-00529-w

Applicability of Electroretinography Measurements in Congenital PAX6-Related Aniridia.

Zobor D, Knézy K, Besztercei B, Szigeti A, Csidey M, Kormányos K, Élo Á, Náray A, Szabó D, Nagy ZZ, Jávorszky E, Corton M, Maka E, Tory K, Barboni M, Szentmáry N.

Invest Ophthalmol Vis Sci. 2025 Nov 03.66(14):36.

PMID: 41235862

FI: 4,7

http://dx.doi.org/10.1167/iovs.66.14.36

Development of PREVEMM: A Venous Thromboembolism Risk Score for Newly Diagnosed Multiple Myeloma Patients.

Martínez-Alfonzo I, Velasco-Rodríguez D, Mínguez-Paniagua P, Mahillo-Fernández I, Fernández-Cuezva L, Velasco-Valdazo A, Vidal-Laso R, Maqueda CF, Martín-Herrero S, Revilla N, González-Teomiro AC, Civeira-Marín M, Prieto E, Domingo-González A, Soto C, Calvo-Villas JM, Askari E, Llamas-Sillero P, Serrano-López J.

Clin Lymphoma Myeloma Leuk. 2025 Oct 10.

PMID: 41177701

FI: 2,7

http://dx.doi.org/10.1016/j.clml.2025.10.008

Prolonged survival in a patient with pbrm1 mutated metastatic cholangiocarcinoma receiving tazemetostat.

Pedregal M, Morafraile EC, Garrido A, Doger B, Hernandez T, Morillo D, Győrffy B, Ocaña A, Minguez P, Moreno V.

NPJ Precis Oncol. 2025 Oct 24.9(1):331.

PMID: 41136536

FI: 8

http://dx.doi.org/10.1038/s41698-025-01113-2

The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.

Low KJ, Foreman J, Hobson RJ, Kwuo H, Martinez-Cayuelas E, Almoguera B, Marin-Reina P, Caraffi SG, Garavelli L, Woods E, Balasubramanian M, Bayat A, Ockeloen CW, Wright CM, Firth HV, Cole TJ.

Eur J Hum Genet. 2025 Oct 13.

PMID: 41077617

FI: 4,6

http://dx.doi.org/10.1038/s41431-025-01947-1

RetiGene, a comprehensive gene atlas for inherited retinal diseases.

Rivolta C, Celik E, Kamdar D, Cancellieri F, Kaminska K, Ullah M, Barberán-Martínez P, Bouckaert M, Cortón M, Delanote E, Fernández-Caballero L, García García G, Holtes LK, Karali M, Lopez I, Peter VG, Schneider N, Vincke L, Ayuso C, Banfi S, Bocquet B, Coppieters F, Cremers FPM, Inglehearn CF, Iwata T, Kalatzis V, Koenekoop RK, Millán JM, Sharon D, Toomes C, Quinodoz M.

Am J Hum Genet. 2025 Oct 02.112(10):2253-2265.

PMID: 40961941

FI: 8,1

http://dx.doi.org/10.1016/j.ajhg.2025.08.017

SARS-CoV-2 mutant spectrum complexity is an epidemiologically evolvable trait.

Martínez-González B, Soria ME, de Ávila AI, Somovilla P, Aguilar-Sabido C, Mínguez P, Ferrer-Orta C, Salar-Vidal L, Lorenzo-Redondo R, Delgado S, Morán F, Verdaguer N, Gadea I, Domingo E, Perales C.

Proc Natl Acad Sci U S A. 2025 Sep 30.122(39):e2515706122.

PMID: 40991435

FI: 9,1

http://dx.doi.org/10.1073/pnas.2515706122

Aurora kinase A drives non-canonical YAP1/TAZ crosstalk to sustain primary resistance to anti-EGFR therapies in colorectal cancer.

Rio-Vilariño A, Garcia-Bautista A, Cenigaonandia-Campillo A, Mateos-Gomez PA, Garcia-Garcia L, Schlaepfer MI, Garcia-Hernandez L, Puerto-Nevado LD, Aguilera O, Baños N, Minguez P, Castellano VM, Garcia-Foncillas J, Cebrian A.

Mol Ther Oncol. 2025 Sep 18.33(3):201032.

PMID: 40917509

FI: 5,3

http://dx.doi.org/10.1016/j.omton.2025.201032

Adult-Onset Ataxia and Tremor as a Manifestation of Undiagnosed Phenylketonuria.

Garcia-Campos C, Feliz Feliz C, Del Val Fernández J, Lorda Sánchez I, Garcia-Ruiz PJ.

Mov Disord Clin Pract. 2025 Jul 31.

PMID: 40741644

FI: 2,7

http://dx.doi.org/10.1002/mdc3.70263

GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.

Merepa SS, Reis LM, Damián A, Bardakjian T, Schneider A, Trujillo-Tiebas MJ, Ayuso C, Galarza LC, Saez Villaverde R, Ortiz-Cabrera NV, Bax DA, Holt R, Ceroni F, Edery P, Grelet M, Riccardi F, Maillard L, Costakos D, Plaisancié J, Chassaing N, Corton M, Semina EV, Ragge NK.

Eur J Hum Genet. 2025 Jul.33(7):860-869.

PMID: 40301690

FI: 4,6

http://dx.doi.org/10.1038/s41431-025-01843-8

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy.

Vulto-van Silfhout AT, Jazet IM, Yzer S, Pas J, Demirdas S, van Rossum EFC, Thiadens AAHJ, van Beek R, Haer-Wigman L, Barge-Schaapveld DQCM, Brasch-Andersen C, Frost S, Bauwens M, De Baere E, Balikova I, Van den Broeck F, Weisz-Hubshman M, Joset P, Miny P, Filges I, Kohl S, De Angeli P, Kühlewein L, Bodenbender JP, Haack T, Poths K, Fernandez-Caballero L, Corton M, Kelly FB, Ayuso C, Martínez-Esteban P, Vissing J, Díaz-Manera J, Straub V, Töpf A, Lin S, Arno G, Macken WL, Spillane J, Ramachandran R, de Vrieze E, van Ham T, Roosing S, Oud MM.

Genet Med. 2025 Jun 28:101513.

PMID: 40590205

FI: 6,2

http://dx.doi.org/10.1016/j.gim.2025.101513

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.

Giovanella S, Poyatos-Andújar AM, Garcia MMA, Avila-Fernandez A, Bustamante-Aragonés A, Ayuso C, Percesepe A, Martorana D, Ferri M, Terracciano A, Massella L, Chester J, Testa F, Ligabue G, Ferrarini M, Gibertoni D, Alfano G, Tenedini E, Artuso L, Marino M, Calabrese O, Tagliafico E, Magistroni R..

Clin Genet. Epub 2025 Jun 18. 2026 Jan;109(1):136-140.

PMID: 40533884

FI: 2,3

http://dx.doi.org/10.1111/cge.70002

Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy.

Georgiou M, Fujinami K, Fujinami-Yokokawa Y, Nasser F, Gale MJ, Ayuso C, Mahroo OA, Pontikos N, Bouzia Z, Jimenez-Rolando B, Carreño E, Baraas RC, Holtan JP, Bragadottir R, Thiadens AAHJ, Pechhacker MG, Vincent A, Héon E, Altalbishi A, Maldonado RS, Neidhardt J, Kousal B, Lišková P, Bertelsen M, Larsen LM, Pennesi ME, Kohl S, Wissinger B, Zrenner E, Webster AR, Michaelides M.

Am J Ophthalmol. 2025 Jun 06.278:73-80.

PMID: 40484299

FI: 4,2

http://dx.doi.org/10.1016/j.ajo.2025.05.044

SARS-CoV-2 biological clones are genetically heterogeneous and include clade-discordant residues.

de Ávila AI, Soria ME, Martínez-González B, Somovilla P, Mínguez P, Salar-Vidal L, Esteban-Muñoz M, Martín-García M, Zuñiga S, Sola I, Enjuanes L, Gadea I, Perales C, Domingo E.

J Virol. 2025 May 20.99(5):e0225024.

PMID: 40272156

FI: 3,8

http://dx.doi.org/10.1128/jvi.02250-24

Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.

Hall J, Corton M, Fries FN, Obst J, Grünauer-Kloevekorn C, Seitz B, Waizel MDV, Jávorszky E, Tory K, Maka E, Amini M, Suiwal S, Stachon T, Szentmáry N.

Ophthalmol Ther. 2025 May.14(5):835-856.

PMID: 40138169

FI: 3,2

http://dx.doi.org/10.1007/s40123-025-01122-1

Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.

Rodilla C, Núñez-Moreno G, Benitez Y, Rodríguez de Alba M, Blanco-Kelly F, López-Alcojor A, Fernández-Caballero L, Perea-Romero I, Del Pozo-Valero M, García-García G, Balanzá M, Villaverde C, Zurita O, Jubin C, Fund C, Delepine M, Leduc A, Deleuze JF, Millán JM, Minguez P, Corton M, Ayuso C.

Int J Mol Sci. 2025 Apr 18.26(8).

PMID: 40332496

FI: 4,9

http://dx.doi.org/10.3390/ijms26083825

Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB.

Fernández-Caballero L, Blanco-Kelly F, Swafiri ST, Martín-Mérida MI, Quinodoz M, Ullah M, Carreño E, Martin-Gutierrez MP, García-Sandoval B, Minguez P, Rivolta C, Corton M, Ayuso C.

Sci Rep. 2025 Apr 28.15(1):14904.

PMID: 40295579

FI: 3,9

http://dx.doi.org/10.1038/s41598-025-97768-9

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Kaminska K, Cancellieri F, Quinodoz M, Moye AR, Bauwens M, Lin S, Janeschitz-Kriegl L, Hayman T, Barberán-Martínez P, Schlaeger R, Van den Broeck F, Ávila Fernández A, Fernández-Caballero L, Perea-Romero I, García-García G, Salom D, Mazzola P, Zuleger T, Poths K, Haack TB, Jacob J, Vermeer S, Terbeek F, Feltgen N, Moulin AP, Koutroumanou L, Papadakis G, Browning AC, Madhusudhan S, Gränse L, Banin E, Sousa AB, Coutinho Santos L, Kuehlewein L, De Angeli P, Leroy BP, Mahroo OA, Sedgwick F, Eden J, Pfau M, Andréasson S, Scholl HPN, Ayuso C, Millán JM, Sharon D, Tsilimbaris MK, Vaclavik V, Tran HV, Ben-Yosef T, De Baere E, Webster AR, Arno G, Sergouniotis PI, Kohl S, Santos C, Rivolta C.

Am J Hum Genet. 2025 Apr 03.112(4):808-828.

PMID: 40081374

FI: 8,1

http://dx.doi.org/10.1016/j.ajhg.2025.02.015

Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients.

Serra-Llovich A, Cullell N, Maroñas O, José Herrero M, Cruz R, Almoguera B, Ayuso C, López-Rodríguez R, Domínguez-Garrido E, Ortiz-Lopez R, Barreda-Sánchez M, Corton M, Dalmau D, Calbo E, Boix-Palop L, Dietl B, Sangil A, Gil-Rodriguez A, Guillén-Navarro E, Mancebo E, Lira-Albarrán S, Minguez P, Paz-Artal E, Olivera GG, Recarey-Rama S, Sendra L, Zucchet EG, López de Heredia M, Flores C, Riancho JA, Rojas-Martinez A, Lapunzina P, Carracedo Á, Arranz MJ, Scourge Cohort Group.

Biomedicines. 2025 Feb 21.13(3).

PMID: 40149530

FI: 3,9

http://dx.doi.org/10.3390/biomedicines13030553

Complex Multifocal Dystonia, Intellectual Disability, and Stereotypies Due to a Novel DYRK1A Variant.

Santos Sánchez de Las Matas L, Ordás C, Almoguera B, Grondona FL, Coma AQ.

Mov Disord Clin Pract. 2025 Feb 19.

PMID: 39969062

FI: 2,7

http://dx.doi.org/10.1002/mdc3.70013

Is more data always better? On alternative policies to mitigate bias in Artificial Intelligence health systems.

Lazcoz G, de Miguel I.

Bioethics. 2025 Feb 09.

PMID: 39925011

FI: 2,1

http://dx.doi.org/10.1111/bioe.13398

Annexin A8 deficiency delays atherosclerosis progression.

Gutiérrez-Muñoz C, Blázquez-Serra R, San Sebastian-Jaraba I, Sanz-Andrea S, Fernández-Gómez MJ, Nuñez-Moreno G, Mínguez P, Escolá-Gil JC, Nogales P, Ollivier V, Martín-Ventura JL, Ho-Tin-Noe B, Rescher U, Méndez-Barbero N, Blanco-Colio LM.

Clin Transl Med. 2025 Jan.15(1):e70176.

PMID: 39835780

FI: 6,8

http://dx.doi.org/10.1002/ctm2.70176

Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity.

Cabrera-Alarcon JL, Cruz R, Rosa-Moreno M, Latorre-Pellicer A, de Almeida SD; Scourge Cohort Group; Riancho JA, Rojas-Martinez A, Flores C, Lapunzina P, Sánchez-Cabo F, Carracedo Á, Enriquez JA.(COLABORADORA: Ayuso C).

Commun Biol. 2025 Jan 9;8(1):33.

PMID: 39789223

FI: 5,1

http://dx.doi.org/10.1038/s42003-024-07314-y