Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity

Authors: Jasmin J. Bennett, Cécile Saint-Martin, Bianca Neumann, Jonna M. E. Männistö, Jayne A. L. Houghton, Susann Empting, Matthew B. Johnson, Thomas W. Laver, Jonathan M. Locke, Benjamin Spurrier, Matthew N. Wakeling, Indraneel Banerjee, Antonia Dastamani, Hüseyin Demirbilek, John Mitchell, Markus Stange, International Congenital Hyperinsulinism Consortium, Klaus Mohnike, Jean-Baptiste Arnoux, Nick D. L. Owens, Martin Zenker, Christine Bellanné-Chantelot, Sarah E. Flanagan

Source: Genome Medicine, Vol 17, Iss 1, Pp 1-11 (2025)

Subject Terms: Congenital hyperinsulinism, Non-coding, Hexokinase 1, Monogenic disease, Variable penetrance, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/48cbef84794840149430aa66e13db424

Parent-of-origin testing of prenatal copy number variations: a retrospective study of 167 family cases

Authors: Yuefang Liu, Yuan Peng, Zhe Liang, Qiong Pan

Source: Scientific Reports, Vol 15, Iss 1, Pp 1-10 (2025)

Subject Terms: Copy number variations, Likely pathogenicity, Low-penetrance pathogenicity, Variation of uncertain significance, Parent-of-origin test, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/ab2b49ad0c8c47339893a91647b23d20

Associations of Karyotype and Age at Diagnosis with Physical Features and Comorbidities in Turner Syndrome: A Single-Site Experience

Authors: Vida B, Török O, Felszeghy E, Orosz M, Krasznai ZT, Tándor Z, Jakab A, Deli T

Source: The Application of Clinical Genetics, Vol Volume 18, Pp 9-27 (2025)

Subject Terms: turner-syndrome, karyotype-phenotype association, comorbidities, mosaicism, incomplete penetrance, premature ovarian insufficiency, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.dovepress.com/associations-of-karyotype-and-age-at-diagnosis-with-physical-features--peer-reviewed-fulltext-article-TACG; https://doaj.org/toc/1178-704X

Access URL: https://doaj.org/article/846eececf9fb4cbd8b5dc1539c4a9dbe

Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s disease

Authors: Rocio Del Pino, Maria Ángeles Acera, Amaia Ortiz de Echevarrría, Beatriz Tijero, Marta Ruiz-Lopez, Johanne Somme, Javier Ruiz-Martínez, Andrea Gabilondo, Ioana M. Croitoru, Lara Pardina, Naia Ayo-Mentxakatorre, Ane Murueta-Goyena, Iñigo Gabilondo, Rosario Sanchez-Pernaute, Tamara Fernández-Valle, Juan Carlos Gómez Esteban

Source: Scientific Reports, Vol 15, Iss 1, Pp 1-13 (2025)

Subject Terms: Huntington disease, Cognition, Pre-manifest, Reduced penetrance, Visual cognition, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/32a4c3ebcef142e393f96070af0717b4

Sex-related differences in genetically determined Alzheimer’s disease

Authors: Laura Del Hoyo Soriano, Olivia Wagemann, Alexandre Bejanin, Johannes Levin, Juan Fortea

Source: Frontiers in Aging Neuroscience, Vol 17 (2025)

Subject Terms: genetically determined Alzheimer’s disease, autosomal dominant Alzheimer’s disease (ADAD), down syndrome-associated Alzheimer’s disease (DS-AD), apolipoprotein E epsilon 4 (APOE4) homozygosity, sex differences in Alzheimer’s disease, disease penetrance in Alzheimer’s disease, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnagi.2025.1522434/full; https://doaj.org/toc/1663-4365

Access URL: https://doaj.org/article/f5c898745aba469395657545665d4f7f

Feature Paper in Physiology and Pathology

Contributors: Roumeliotis, Stefanos, Minervini, Giuseppe

Subject Terms: kidney fibrosis, chronic kidney disease, TGFβR-1, flavonoids, pharmacokinetics, molecular docking, molecular dynamics simulations, retrospective cohort study, kidney disease, end-stage kidney disease, vitamin D, tuberculosis, type 2 diabetes mellitus, genetic susceptibility, molecular chaperons, heat shock factor 1 (HSF1), single nucleotide polymorphism, gene expression, protein folding, unfolded protein response, body mass index, obesity, sex dimorphism, NF-κB signaling, signaling dynamics, cell-fate decision, encoding and decoding, cellular information, human diseases, prolyl hydroxylase domain-containing protein, PHD protein, Phd1 gene, osteoblast, chondrocyte, knockout mice, phenotype, hypoxia-inducible factor, endochondral bone formation, MRI, prefrontal areas, putamen, gray matter volume, specific phobia, cognition, rice intake, adults, Qatar Biobank study, Neoplasia, exercise, sensitivity, chemotherapy, measurement of results reported by the patient, biomechanics, osteoarthritis, cartilage, musculoskeletal simulation, probabilistic modelling, experimental autoimmune encephalomyelitis, colitis, growth factors, nematode adaptation, angiogenesis, knee joint, biomarkers, extracellular vesicles, sepsis, coagulation, disseminated intravascular coagulation, sepsis-induced coagulopathy, laboratory evaluation, guidelines, cell competition, cellular Potts model, invasion, travelling wave, neutrophil extracellular traps, peripheral blood, infection, digital white blood cell differential, genetic disease, prevalence, penetrance, accurate diagnosis, disease iceberg effect, cumulative lifetime risk, familial aggregation, ozone, ozone therapy, oxidative stress, antioxidants defense, inflammation, dupilumab, biologic, dermatitis, lichen amyloidosis, primary cutaneous amyloidosis, primary localized cutaneous amyloidosis, IgG4-related disease, IgG4-related skin disease, immunoglobulin G4-related disease, immunoglobulin G4-related skin disease, WNT16, chondrocytes, mice, chondrogenesis, cell culture, subarachnoid hemorrhage, bone-marrow mesenchymal stem cells, cognitive impairment, high-mobility group box 1, central centrifugal cicatricial alopecia, scarring alopecia, pediatric, scarring hair loss, skin of colour, public health, ambulatory blood pressure, antihypertensive therapy, peritoneal dialysis, sex differences, geranylgeraniol, GGOH, bisphosphonates, medication-related osteonecrosis of the jaw, MRONJ, mevalonate pathway, platelets, PEVs, hemostasis, wound healing, carcinogenesis, therapy, imidacloprid, apoptosis, telencephalon, zebrafish, serous endometrial intraepithelial carcinoma, SEIC, MUSC, adjuvant therapy, relapse, BK-polyomavirus, decoy cell, polyoma nephropathy, large T antigen, VP1, complications, congenital heart disease, ECMO, extracorporeal life support, mortality, risk factors, single ventricle, BOLD signal variability, pediatrics, biomarker, fMRI, neurodevelopment, grip strength, young children, active play, growth and development, platelet-rich plasma, rhein, knee osteoarthritis, Crohn’s disease, intestinal ultrasonography, contrast-enhanced ultrasound, MR enterography, depressive disorders, cognitive function, physical function, dementia, older people, copepods, lipidomics, climate change, oceanic food chain, sentinel species, patient blood management, red blood cell, transfusion, hemoglobin, retrospective study, social isolation, space radiation, blood–brain barrier, lateral ventricle, post-stroke depression, behavioral tests, social activity, motor function, antidepressants, murine models of depression, Theatre studies, Music

File Description: application/octet-stream

Access URL: https://directory.doabooks.org/handle/20.500.12854/152786
https://mdpi.com/books/pdfview/book/10019

Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila

Authors: Thorpe, Holly J. ¹, Pedersen, Brent S. ¹, Dietze, Miranda ², Link, Nichole ², Quinlan, Aaron R. ¹, Bonkowsky, Joshua L. ^{3, 4}, Thomas, Ashley ⁵, Chow, Clement Y. ^{1, ∗}

Source: In The American Journal of Human Genetics 6 March 2025 112(3):572-582

Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

Authors: Turnbull, C., Garrett, A., Loong, L., Choi, S., Torr, B., Allen, S., Durkie, M., Callaway, A., Drummond, J., Burghel, G.J., Robinson, R., Berry, I.R., Wallace, A.J., Eccles, D.M., Tischkowitz, M., Ellard, S., Hanson, H., Baple, E., Evans, D.G., Woodward, E., Lalloo, F., Samant, S., Lucassen, A., Znaczko, A., Shaw, A., Ansari, A., Kumar, A., Donaldson, A., Murray, A., Ross, A., Taylor-Beadling, A., Taylor, A., Innes, A., Brady, A., Kulkarni, A., Hogg, A.C., Bowden, A. Ramsay, Hadonou, A., Coad, B., McIldowie, B., Speight, B., DeSouza, B., Mullaney, B., McKenna, C., Brewer, C., Olimpio, C., Clabby, C., Crosby, C., Jenkins, C., Armstrong, C., Bowles, C., Brooks, C., Byrne, C., Maurer, C., Baralle, D., Chubb, D., Stobo, D., Moore, D., O'Sullivan, D., Donnelly, D., Randhawa, D., Halliday, D., Atkinson, E., Rauter, E., Johnston, E., Maher, E., Sofianopoulou, E., Petrides, E., McRonald, F., Pelz, F., Frayling, I., Corbett, G., Rea, G., Clouston, H., Powell, H., Williamson, H., Carley, H., Thomas, H.J.W., Tomlinson, I., Cook, J., Hoyle, J., Tellez, J., Whitworth, J., Williams, J., Murray, J., Campbell, J., Tolmie, J., Field, J., Mason, J., Burn, J., Bruty, J., Callaway, J., Grant, J., Del Rey Jimenez, J., Pagan, J., VanCampen, J., Barwell, J., Monahan, K., Tatton-Brown, K., Ong, K.R., Murphy, K., Andrews, K., Mokretar, K., Cadoo, K., Smith, K., Baker, K., Brown, K., Reay, K., McKay Bounford, K., Bradshaw, K., Russell, K., Stone, K., Snape, K., Crookes, L., Reed, L., Taggart, L., Yarram, L., Cobbold, L., Walker, L., Hawkes, L., Busby, L., Izatt, L., Kiely, L., Hughes, L., Side, L., Sarkies, L., Greenhalgh, K.-L., Shanmugasundaram, M., Duff, M., Bartlett, M., Watson, M., Owens, M., Bradford, M., Huxley, M., Slean, M., Ryten, M., Smith, M., Ahmed, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Harrison, R., Hart, R., Kirk, R., Martin, R., Nyanhete, R., Wright, R., Davidson, R., Cleaver, R., Talukdar, S., Butler, S., Sampson, J., Ribeiro, S., Dell, S., Mackenzie, S., Hegarty, S., Albaba, S., McKee, S., Palmer-Smith, S., Heggarty, S., MacParland, S., Greville-Heygate, S., Daniels, S., Prapa, S., Abbs, S., Tennant, S., Hardy, S., MacMahon, S., McVeigh, T., Foo, T., Bedenham, T., Cranston, T., McDevitt, T., Clowes, V., Tripathi, V., McConnell, V., Woodwaer, N., Wallis, Y., Kemp, Z., Mullan, G., Pierson, L., Rainey, L., Joyce, C., Timbs, A., Reuther, A.-M., Frugtniet, B., Husher, C., Lawn, C., Corbett, C., Nocera-Jijon, D., Reay, D., Cross, E., Ryan, F., Lindsay, H., Oliver, J., Dring, J., Spiers, J., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Brown, R., Shepherd, S., Begum, S., Tadiso, T., Linton-Willoughby, T., Heppell, H., Sahan, K., Worrillow, L., Allen, Z., Watt, C., Hegarty, M., Mitchell, R., Coles, R., Nickless, G., Cojocaru, E., Doal, I., Sava, F., McCarthy, C., Jeeneea, R., Goudie, D., McConachie, M., Botosneanu, S., Kavanaugh, G., Sherlaw, C., Tsoulaki, O., Forde, C., Petley, E., Jones, A.-B., Oprych, K., Pryde, S., Hyder, Z., Elkhateeb, N., Braham, R., Hanington, L., Huntley, C., Irving, R., Sadan, A., Ramos, M., Elliot, C., Wren, D., Lobo, D., McLean, J., May, D., Kearney, L., Campbell, T., Asakura, K., Alwadi, L., O’Shea, R., Gabriel, J., Chiecchio, L., Bowman, P., Sutton, L.A., Walsh, C., Cloke, V., Ucanok, D., Davies, J., Pleasance, B., Maguire, E., Whaite, A., Best, S., Westbury, S., Logan, A., Navarajasegaran, D., Bench, A., Wightman, P., Cartwright, A., Higgs, E., J.Bott, Whitehouse, H., Stevens, J., Martin, D., Dunlop, J., Thomas, S., Sau, C., Farndon, S., Coleman, N., Angelini, P., Massey, H., Rowlands, C., Garcia-Petit, C., Gillespie, K., Alder, A., Middleton, E., Cassidy, C., Orfali, N., Webb, A., Luharia, A., Walker, N., Charlton, J., Andreou, A., Peddie, J., Khan, M., Wilkinson, L., Bezuidenhout, H., Edis, M., Callard, A., Ostrowski, P., Moverley, P., Bean, K., Dunne, A., Moleirinho, A., Waller, S., Cox, K., Greensmith, L., Brittle, A., Gossan, N., Freestone, L., Shak, C., Langford, T., Clinch, Y., Livesey, H., Borland, S., Joshi, A., Wall, K., Whitworth, A., Wilsdon, A., Edgerley, K., Pugh, S., Chrysochoidi, N., Mutch, S., McMullan, C., Johnston, Y., Muraru, M., May, A., Begum, R., Smith, C., Patel, R., Bhatnagar, I., Brown, D., Willan, J., Taylor, S., Jones, K., Ramsden, C., Taiwo, O., Jaudzemaite, J., Sharmin, R., Young, L., O’Dubhshlaine, C., McSorley, L., Rodriguez, I. Abreu, Lillis, S., Alexopoulos, P., Mortensson, E., Kingham, L., Moore, R., Kosicka-Slawinska, M., Aslam, S., Wells, R., Carter, A., Warren, H., Rolf, E., Reed, H., Pearce, L., Lock, D., Ali, F., Kolozi, A., White, N., Wood, D., Hayden, C., Garrett, Alice ^{1, 2}, Allen, Sophie ¹, Durkie, Miranda ³, Burghel, George J. ⁴, Robinson, Rachel ⁵, Callaway, Alison ⁶, Field, Joanne ⁷, Frugtniet, Bethan ², Palmer-Smith, Sheila ⁸, Grant, Jonathan ⁹, Pagan, Judith ¹⁰, McDevitt, Trudi ¹¹, Rowlands, Charlie F. ¹, McVeigh, Terri ¹², Hanson, Helen ^{1, 13, 14}, Turnbull, Clare ^{1, 12, ∗}

Source: In Genetics in Medicine February 2025 27(2)

Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree

Authors: Sonia Emperador, Mouna Habbane, Ester López-Gallardo, Alejandro del Rio, Laura Llobet, Javier Mateo, Ana María Sanz-López, María José Fernández-García, Hortensia Sánchez-Tocino, Sol Benbunan-Ferreiro, María Calabuig-Goena, Carlos Narvaez-Palazón, Beatriz Fernández-Vega, Hector González-Iglesias, Roser Urreizti, Rafael Artuch, David Pacheu-Grau, Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)

Subject Terms: Leber hereditary optic neuropathy, Mitochondrial DNA, Pathologic mutation, Large pedigree, Incomplete penetrance, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/6e3b9de78c4e4071ad94d231642e4ed6

Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance

Authors: Robin N. Beaumont, Gareth Hawkes, Adam C. Gunning, Caroline F. Wright

Source: Genome Medicine, Vol 16, Iss 1, Pp 1-10 (2024)

Subject Terms: Constraint, Penetrance, Variant interpretation, Genomic medicine, Developmental disorders, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/38a6936aa39247d38bb363a5ab54185d

Acute intermittent porphyria: a disease with low penetrance and high heterogeneity

Authors: Jia-Jia Lei, Shuang Li, Bai-Xue Dong, Jing Yang, Yi Ren

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: acute intermittent porphyria, hydroxymethylbilane synthase, gene mutation, penetrance, heterogeneity, oligogenic inheritance, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1374965/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/845507bc8e9943c6a59bcd28cc37f4a8

Exploring the impact of a KCNH2 missense variant on Long QT syndrome: insights into a novel gender-selective, incomplete penetrance inheritance mode

Authors: Peng Chen, Zainul Zampawala, Hong Wang, Luyun Wang

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: kcnh2, Long QT syndrome, gender selective, turner syndrome, incomplete penetrance, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1409459/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/d3d25666351943b68ec4045bb0f0afaf

Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism

Authors: Y. Henry Sun, Yueh-Lin Wu, Ben-Yang Liao

Source: Journal of Biomedical Science, Vol 30, Iss 1, Pp 1-13 (2023)

Subject Terms: Phenotypic heterogeneity, Penetrance, Expressivity, Pleiotropy, Stochasticity, Threshold, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1423-0127

Access URL: https://doaj.org/article/ce0faa5e962f428dbed167caef820ac5

Microbiological and Molecular Investigation of Antimicrobial Resistance in Staphylococcus aureus Isolates from Western Romanian Dairy Farms: An Epidemiological Approach

Authors: Ioan Hutu, Bianca Cornelia Lungu, Ioana Irina Spataru, Iuliu Torda, Tiberiu Iancu, Paul Andrew Barrow, Calin Mircu

Source: Animals, Vol 14, Iss 15, p 2266 (2024)

Subject Terms: Staphylococcus aureus, mastitis, antimicrobial resistance, penetrance, dairy farms, Veterinary medicine, SF600-1100, Zoology, QL1-991

File Description: electronic resource

Relation: https://www.mdpi.com/2076-2615/14/15/2266; https://doaj.org/toc/2076-2615

Access URL: https://doaj.org/article/f21dc5f4518b4a4eb65bf616785e13d7

Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants – an Asian study of 572 familiesResearch in context

Authors: Weang-Kee Ho, Nur Tiara Hassan, Sook-Yee Yoon, Xin Yang, Joanna M.C. Lim, Nur Diana Binte Ishak, Peh Joo Ho, Eldarina A. Wijaya, Patsy Pei-Sze Ng, Craig Luccarini, Jamie Allen, Mei-Chee Tai, Jianbang Chiang, Zewen Zhang, Mee-Hoong See, Meow-Keong Thong, Yin-Ling Woo, Alison M. Dunning, Mikael Hartman, Cheng-Har Yip, Nur Aishah Mohd Taib, Douglas F. Easton, Jingmei Li, Joanne Ngeow, Antonis C. Antoniou, Soo-Hwang Teo

Source: The Lancet Regional Health. Western Pacific, Vol 44, Iss , Pp 101017- (2024)

Subject Terms: Penetrance, Breast cancer risk, Ovarian cancer risk, BRCA1, BRCA2, Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666606524000117; https://doaj.org/toc/2666-6065

Access URL: https://doaj.org/article/98fce87ebcdf49c88046d79e3ec0f863

Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping

Authors: Jieni Jiang, Xiaotang Cai, Haibo Qu, Qiang Yao, Tiantian He, Mei Yang, Hui Zhou, Xuemei Zhang

Source: Frontiers in Neurology, Vol 15 (2024)

Subject Terms: facioscapulohumeral muscular dystrophy 1, optical genome mapping, sibling patient, low-level mosaicism, germline mosaicism, disease penetrance, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1258831/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/9c8cd440307a4edfae57a7c9a20289ba

A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts

Authors: Jung Kim, Jeremy Haley, Jessica N. Hatton, Uyenlinh L. Mirshahi, H. Shanker Rao, Mark F. Ramos, Diane Smelser, Gretchen M. Urban, Kris Ann P. Schultz, David J. Carey, Douglas R. Stewart

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101846- (2024)

Subject Terms: DICER1, DICER1 syndrome, Health care population, Penetrance, Prevalence, Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424009920; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/d0ec4b14921545f3b4f169c60f7ae7da

Ultraviolet light exposure and its penetrance through the eye in a porcine model

Authors: Hideki Fukuoka, Helena E. Gali, Jennifer J. Bu, Ruti Sella, Natalie A. Afshari

Source: International Journal of Ophthalmology, Vol 16, Iss 2, Pp 172-177 (2023)

Subject Terms: ultraviolet light, penetrance, contact lens, cornea, lens, Ophthalmology, RE1-994

File Description: electronic resource

Relation: http://ies.ijo.cn/en_publish/2023/2/20230202.pdf; https://doaj.org/toc/2222-3959; https://doaj.org/toc/2227-4898

Access URL: https://doaj.org/article/a58f51a7dd1045e8a59ddd0af4247e69

The first genetically authenticated case of Leber hereditary optic neuropathy in Sri Lanka: a case report and review of the literature

Authors: Kawmadi Gunawardena, Vajira H. W. Dissanayake, Thashi Chang

Source: Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-5 (2023)

Subject Terms: Mitochondrial, Variable penetrance, Male predominance, Blindness, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1752-1947

Access URL: https://doaj.org/article/2dd32faac22a491f9b359e89e43e4baa

Modeling incomplete penetrance in arrhythmogenic cardiomyopathy by human induced pluripotent stem cell derived cardiomyocytes

Authors: Marzia De Bortoli, Viviana Meraviglia, Katarina Mackova, Laura S. Frommelt, Eva König, Johannes Rainer, Chiara Volani, Patrizia Benzoni, Maja Schlittler, Giada Cattelan, Benedetta M. Motta, Claudia Volpato, Werner Rauhe, Andrea Barbuti, Serena Zacchigna, Peter P. Pramstaller, Alessandra Rossini

Source: Computational and Structural Biotechnology Journal, Vol 21, Iss , Pp 1759-1773 (2023)

Subject Terms: Arrhythmogenic cardiomyopathy, Incomplete penetrance, Human induced pluripotent stem cell derived cardiomyocytes, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2001037023000764; https://doaj.org/toc/2001-0370

Access URL: https://doaj.org/article/2220b6b3a2c54765af91e30f1c2ec426