Results 41 to 50 of about 123,315 (302)
The Mutationathon highlights the importance of reaching standardization in estimates of pedigree-based germline mutation rates
eLife, 2022 In the past decade, several studies have estimated the human per-generation germline mutation rate using large pedigrees. More recently, estimates for various nonhuman species have been published.Lucie A Bergeron, Søren Besenbacher, Tychele Turner, Cyril J Versoza, Richard J Wang, Alivia Lee Price, Ellie Armstrong, Meritxell Riera, Jedidiah Carlson, Hwei-yen Chen, Matthew W Hahn, Kelley Harris, April Snøfrid Kleppe, Elora H López-Nandam, Priya Moorjani, Susanne P Pfeifer, George P Tiley, Anne D Yoder, Guojie Zhang, Mikkel H Schierup +19 moredoaj +1 more sourceDefending the genome from the enemy within:mechanisms of retrotransposon suppression in the mouse germline [PDF]
, 2013 The viability of any species requires that the genome is kept stable as it is transmitted from generation to generation by the germ cells. One of the challenges to transgenerational genome stability is the potential mutagenic activity of transposable ...Richard R. Meehan, Dunican, Donncha S; id_orcid, Meehan, Richard, Ian R. Adams, Marie MacLennan, James H. Crichton, Crichton, James H, Maclennan, Marie, Adams, Ian R, Donncha S. Dunican +9 morecore +1 more sourceAssociation of MC1R Variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study [PDF]
, 2010 <p><b>Background</b> Carrying the cyclin-dependent kinase inhibitor 2A (CDKN2A) germline mutations is associated with a high risk for melanoma. Penetrance of CDKN2A mutations is modified by pigmentation characteristics, nevus phenotypes,Pastorino, L., Melanoma Genetics Consortium, Goldstein, A M, Taylor JC, Ming M, Taylor Y, Martin NG, PUIG S, Rull R, Gliori S, Holland EA., Gonzalez M, Calista, D, Mackie, R.M., Lindén D, N. K. Hayward, Randerson-Moor, J, Palou J, Vilalta A, Ming, M. E., V. Höiom, Belle, P. van, Conill C, Gillanders, E, Avril, M.F., Vidal-Sicart S, Carrera, C., Bishop, J.A.N., Lang, J. M., Bishop, D. T., Mohamdi, H., GRUIS N, Bressac-de Paillerets, B, BIANCHI-SCARRÀ G, Gruis NA, P. A. Kanetsky, Bressac-de Paillerets, B., Malvehy J, N. Gruis, Whiteman DC, CARRERA C, Hayward, N. K., Tucker, M.A., G. J. Mann, van der Velden, P, Badenas C, R. M. Mackie, Stark, M., Nasti S, Marti-Laborda R, GenoMEL, Harbst K, V. Chaudru, RANDERSON-MOOR J, B. Bressac-de Paillerets, C. Ingvar, ELDER DE, PASTORINO L, J. Randerson-Moor, Tsao, H, Mohamdi, H, Landi G, Cuellar F, HAYWARD NK, AVRIL MF, Brassac-de Paillerets, B., Minghetti P, van Belle, P., Carrera, C, C. J. Njauw, Kanetsky P, GenoMEL,, E. Gillanders, A. M. Goldstein, Calista, D., Hayward, N K, Gargiulo S, W. BRUNO, Kanetsky, P.A., Arguís P, Bianchi-Scarra, G., L. Pastorino, D. E. Elder, Bertazzi PA, BERGMAN W, Chaudru, V, Mackie, R M, HÖIOM V, Battistuzzi L, Duffy DL, Origone P, Elder, D. E., Holland, E.A., HANSSON J, MacGregor S, MANN GJ, TUCKER MA, Mack T, Lang, J.M., F. Demenais, X. R. Yang, Ancero A, de Lichy M, Newton Bishop, J. A., Bianhi-Scarrà G, Landi, MT, Leake S, Mann, G J, Landi, M.T., VAN BELLE P, Stark, M, Hayward, N.K., van Mourik L, Yang, X.R., Parossian S, Demenais, F, Nielsen K, Elder, D.E., Tsao, H., Arcangeli F, Montgomery GW, MOHAMDI H, CHAUDRU V, J. Palmer, Mackie, R., M. E. Ming, Demenais, F., AZIZI E, Ming, M E, M. T. Landi, Azizi, E., Holland, E A, Randerson-Moor, J., Alós L, Gruis, N, Olsson, Håkan, J. M. Lang, van Nieuwpport FA, Castel T, LANDI MT, LANG JM, M. F. Avril, Haynes S, Kanetsky, P. A., Queirolo P, Karpavicius B, BISHOP DT, Palmer, J., M. Harland, Hogg, D., J. Hansson, CALISTA D, VAN DER VELDEN P, van der Velden, P., Yang, X R, Chaudru, V., Bergman, W., van Belle, P, Chan M, Höiom, V, BRUNO W, Kanetsky, P A, PALMER J, NJAUW CJ, Lang, J., H. Tsao, Sánchez M, G. Bianchi-Scarrà, Vilella R, NEWTON BISHOP JA, Avril, M F, Maubec E, Goldstein, A.M., P. van der Velden, J. A. Newton Bishop, KANETSKY PA, Mila M, Hoiom, V., Melanoma Genetics Consortium: Demenais F, H. Olsson, BRESSAC-DE PAILLERETS B, Harland, M, Tuominen R, E. A. Holland, Affleck P, Whittaker L, Loo JC, Mackie, R. M., Tesema L, Njauw, C. J., Iles MM, Borg Å, Holland, E. A., Ingvar, Christian, MACKIE RM, Hansson, J., HOLLAND EA, GHIORZO P, Butille JA, Cervera R, Ogbah Z, Azizi, E, Bishop, D.T., C. Carrera, Velden, P. van der, Landi, M. T., Campo A, Ming, M.E., Newton Bishop, J A, Jeannin P, Lang, J M, Bishop, D T, MING ME, Njauw, C J, E. Azizi, HARLAND M, Lang J, M. A. Tucker, Elder D, Gabriel D, Gruis, N., Gillanders, E., W. Bergman, Lesueur F, Capirossi D, DEMENAIS F, STARK M, Mackie R, Ingvar, C., GILLANDERS E, Njauw, C.J., P. van Belle, Barrett JH, GOLDSTEIN AM, M. Stark, Hogg, D, Iglesias P, Puig, S., D. Hogg, Elder, D E, INGVAR C, Kukalizch K, Mann, G.J., Olsson, H., Bergman, W, Pastorino, L, Mann, G. J., S. Puig, Schmid H, Tucker, M A, D. Calista, Mitra N, TSAO H, YANG XR, Kefford RF, P. GHIORZO, Njauw CN, Avril, M. F., Jönsson G, Harrison J, HOGG D, Ruffin A, Aguilera P, D. T. Bishop, Corda E, OLSSON H, Puig, S, Hansson, J, Palmer, J, Bianchi-Scarrà, G, H. Mohamdi, Måsbäck A, Newton Bishop, J.A., Harland, M., Goldstein, A. M. +274 morecore +1 more sourceGermline mutation rate predicts cancer mortality across 37 vertebrate species. [PDF]
Evol Med Public HealthInternational audienceAbstract Background and objectives Cancer develops across nearly every species. However, cancer occurs at unexpected and widely different rates throughout the animal kingdom.Kapsetaki SE, Compton ZT, Mellon W, Vincze O, Giraudeau M, Harrison TM, Abegglen LM, Boddy AM, Maley CC, Schiffman JD. +9 moreeuropepmc +2 more sourcesCase report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias
Frontiers in Endocrinology, 2022 Genetic testing has become the standard of care for many disease states. As a result, physicians treating patients who have tumors often rely on germline genetic testing results for making clinical decisions.Raphaelle D. Vallera, Yanli Ding, Kimmo J. Hatanpaa, Justin A. Bishop, Sasan Mirfakhraee, Abdel A. Alli, Sergei G. Tevosian, Mouna Tabebi, Mouna Tabebi, Oliver Gimm, Peter Söderkvist, Peter Söderkvist, Cynthia Estrada-Zuniga, Patricia L. M. Dahia, Hans K. Ghayee +14 moredoaj +1 more sourceGermline Elongator mutations in Sonic Hedgehog medulloblastoma [PDF]
Nature, 2020 Cancer genomics has revealed many genes and core molecular processes that contribute to human malignancies, but the genetic and molecular bases of many rare cancers remains unclear. Genetic predisposition accounts for 5 to 10% of cancer diagnoses in children1,2, and genetic events that cooperate with known somatic driver events are poorly understood ...Sebastian M. Waszak, Giles W, Robinson, Brian L. Gudenas, Kyle S. Smith, Antoine Forget, Marija Kojic, Jesus Garcia-Lopez, Jennifer Hadley, Kayla V. Hamilton, Emilie Indersie, Ivo Buchhalter, Jules Kerssemakers, Natalie Jäger, Tanvi Sharma, Tobias Rausch, Marcel Kool, Dominik Sturm, David T. W. Jones, Aksana Vasilyeva, Ruth G. Tatevossian, Geoffrey Neale, Bérangère Lombard, Damarys Loew, Joy Nakitandwe, Michael Rusch, Daniel C. Bowers, Anne Bendel, Sonia Partap, Murali Chintagumpala, John Crawford, Nicholas G. Gottardo, Amy Smith, Christelle Dufour, Stefan Rutkowski, Tone Eggen, Finn Wesenberg, Kristina Kjaerheim, Maria Feychting, Birgitta Lannering, Joachim Schüz, Christoffer Johansen, Tina V. Andersen, Martin Röösli, Claudia E. Kuehni, Michael Grotzer, Marc Remke, Stéphanie Puget, Kristian W. Pajtler, Till Milde, Olaf Witt, Marina Ryzhova, Andrey Korshunov, Brent A. Orr, David W. Ellison, Laurence Brugieres, Peter Lichter, Kim E. Nichols, Amar Gajjar, Brandon J. Wainwright, Olivier Ayrault, Jan O. Korbel, Paul A. Northcott, Stefan M. Pfister +62 moreopenaire +8 more sourcesA de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs [PDF]
, 2012 BACKGROUND
About 9% of the offspring of a clinically healthy Piétrain boar named 'Campus' showed a progressive postural tremor called Campus syndrome (CPS). Extensive backcross experiments suggested a dominant mode of inheritance, and the founder boar Tammen, Imke, Barbara Harlizius, Murgiano, Leonardo, Harlizius, Barbara, Drögemüller, Cord, Leonardo Murgiano, Imke Tammen, Cord Drögemüller +7 morecore +1 more sourceEuropean Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents
Pediatric Blood &Cancer, EarlyView.ABSTRACT
Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach +23 morewiley +1 more source
