Results 211 to 220 of about 688,262 (355)

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics [PDF]

, 2018
On behalf of the European Society of Human Genetics, Daniele Carrieri, Heidi Howard, Caroline Benjamin, Angus Clarke, Sandi Dheensa, Shane Doheny, Naomi Hawkins, Tanya F. Halbersma-Konings, Leigh Jackson, Hülya Kayserili, Susan Kelly, Anneke Lucassen, Álvaro Mendes, Emmanuelle Rial‐Sebbag, Vigdís Stefánsdóttir, Peter D. Turnpenny, Carla van El, Irene M. van Langen, Martina C. Cornel, Francesca Forzano   +20 more
openalex   +1 more source

Stimulator of interferon genes agonist augmented antitumor immunity of osimertinib in Egfr‐mutated lung cancer

Molecular Oncology, EarlyView.
Combining osimertinib with the STING agonist ADU‐S100 activates innate and adaptive immunity to overcome the non‐inflamed microenvironment of Egfr‐mutant lung cancer. This combination increases NK and CD8+ T‐cell infiltration, associated with activation of the STING‐IRF3 pathway and local immunogenic cell death.
Jun Nishimura, Tadahiro Kuribayashi, Johannes Brägelmann, Sachi Okawa, Masataka Taoka, Shunta Mori, Tomoka Nishimura, Takaaki Tanaka, Go Makimoto, Kiichiro Ninomiya, Kammei Rai, Eiki Ichihara, Ryohei Katayama, Katsuyuki Hotta, Masahiro Tabata, Yosuke Togashi, Yoshinobu Maeda, Martin L. Sos, Katsuyuki Kiura, Kadoaki Ohashi   +19 more
wiley   +1 more source

Lessons learned in migrating from one commercial genetics clinical decision-making tool to another: Assessment of data integrity and utilization. [PDF]

Genet Med Open
Le C, Tatunay K, Liu W, Lu H, Rodis NA, Nam T, Laurino MY, Dubard-Gault ME.   +7 more
europepmc   +1 more source

Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment. [PDF]

J Pediatr Endocrinol Metab, 2015
Globa E, Zelinska N, Mackay DJ, Temple KI, Houghton JA, Hattersley AT, Flanagan SE, Ellard S.   +7 more
europepmc   +1 more source

Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡ [PDF]

, 2017
Joyce Harper, Kristiina Aittomäki, Pascal Borry, Martina C. Cornel, Guido de Wert, Wybo Dondorp, Joep Geraedts, Luca Gianaroli, K. Ketterson, I. Liebærs, Kersti Lundin, Heidi Mertes, Michael A. Morris, Guido Pennings, Karen Sermon, Claudia Spits, Sirpa Soini, Aafke P.A. van Montfoort, Anna Veiga, Joris Vermeesch, Stéphane Viville, Milan Maçek, on behalf of the European Society of Human Reproduction and Embryology and European Society of Human Genetics   +22 more
openalex   +1 more source

Loss of IGF‐1R impairs DNA‐PKcs recruitment to chromatin leading to defective end‐joining

Molecular Oncology, EarlyView.
IGF‐1R promotes radioresistance by facilitating DNA‐PKcs recruitment to chromatin, enabling non‐homologous end‐joining (NHEJ) repair of double‐strand breaks. Inhibition or loss of IGF‐1R disrupts this recruitment to damage sites, driving compensatory reliance on microhomology‐mediated end‐joining (MMEJ) repair.
Matthew O. Ellis, Jack V. Mills, Wojciech Niedzwiedz, Valentine M. Macaulay   +3 more
wiley   +1 more source

Single center experience developing sustainable genetics clinical care: a model to address workforce challenges in medical genetics. [PDF]

Curr Opin Pediatr
Kinney A, Dalton SA, McCarrier J, Basel D.   +3 more
europepmc   +1 more source

USP29‐regulated noncanonical stabilization of the hypoxia‐inducible factor‐α in aggressive prostate cancer

Molecular Oncology, EarlyView.
We identify USP29 as the only DUB mirroring CA9 expression, a marker of hypoxia and HIF pathway activation associated with PCA aggressiveness. USP29 stabilizes HIF‐1α and HIF‐2α via a noncanonical mechanism that is independent of PHD/pVHL activity yet relies on proteasomal regulation, establishing USP29 as a previously unrecognized regulator of hypoxic
Amelie S Schober, Leire Moreno‐Cugnon, Laura Martínez‐Pérez, Amaia Ercilla, Amaia Zabala‐Letona, Adrián Vicente‐Barrueco, Maider Fagoaga‐Eugui, Saioa Garcia‐Longarte, Blanca Calle‐Ciborro, Encarnación Pérez‐Andrés, Onintza Carlevaris, Sara Pozo, Isabel Mendizabal, Ugo Mayor, Arkaitz Carracedo, Violaine Sée, Edurne Berra   +16 more
wiley   +1 more source

Peutz-Jeghers Syndrome: A Comprehensive Review of Genetics, Clinical Features, and Management Approaches. [PDF]

Cureus
Amru RL, Dhok A.
europepmc   +1 more source

Clinical Genetics Handbook [PDF]

, 1995
S J Davies
openalex   +1 more source