Results 131 to 140 of about 157,517 (293)

Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease model

Developmental Dynamics, EarlyView.
Abstract Background Robinow syndrome is a rare developmental syndrome caused by variants in genes in Wnt signaling pathways. We previously showed that expression of patient variants in Dishevelled 1 (DVL1) in Drosophila and chicken models disrupts the balance of canonical and non‐canonical Wnt signaling.
Gamze Akarsu, Katja R. MacCharles, Kenneth Kin Lam Wong, Joy M. Richman, Esther M. Verheyen   +4 more
wiley   +1 more source

Dilated cardiomyopathy evaluation with Imagenomics: combining multimodal cardiovascular imaging and genetics

ESC Heart Failure, EarlyView.
Systematic approach to dilated cardiomyopathy diagnosis. Dilated cardiomyopathy is a clinical diagnosis characterized by the presence of left ventricular dilatation and systolic disfunction unexplained by abnormal loading conditions or coronary artery disease.
Kristian Galanti, Ghaith Sharaf Dabbagh, Fabrizio Ricci, Sabina Gallina, Roberta Giansante, Ron Jacob, Edmond Obeng‐Gyimah, Leslie T. Cooper Jr, Sanjay K. Prasad, David H. Birnie, Andrew P. Landstrom, Selma F. Mohammed, Saidi Mohiddin, Mohammed Y. Khanji, Anwar A. Chahal   +14 more
wiley   +1 more source

Uncombable hair: A condition with autosomal dominant inheritance

, 1982
Ben Zion Garty, A Metzker, Marc Mimouni, I. Varsano   +3 more
openalex   +1 more source

Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa. [PDF]

, 1994
John J. Wroblewski, John A. Wells, Anja Eckstein, Fred W. Fitzke, C Jubb, T J Keen, C.F. Inglehearn, Siladitya Bhattacharya, G. B. Arden, Marcelle Jay   +9 more
openalex   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Patient‐Reported Outcomes with Selpercatinib Treatment Among Patients with RET‐Mutant Medullary Thyroid Cancer in the Phase I/II LIBRETTO‐001 Trial

The Oncologist, EarlyView., 2021
Abstract Background Medullary thyroid cancer (MTC) standard of care includes multikinase inhibitors (MKIs), which can exacerbate disease‐related diarrhea, primarily because of non‐RET kinase inhibition. We report diarrhea and other patient‐reported outcomes (PROs) with selpercatinib, a highly selective RET inhibitor, among patients with RET‐mutant MTC ...
Lori J. Wirth, Bruce Robinson, Valentina Boni, Daniel S.W. Tan, Caroline McCoach, Erminia Massarelli, Lisa M. Hess, Min‐Hua Jen, Jennifer Kherani, Elizabeth Olek, Vivek Subbiah   +10 more
wiley   +1 more source

The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset. [PDF]

Brain
Liu H, Marsh TW, Shi X, Renton AE, Bowling KM, Ziegemeier E, Wang G, Cao Y, Aristel A, Li J, Dickson A, Perrin RJ, Goate AM, Fernández V, Day GS, Doering M, Daniels A, Gordon BA, Benzinger TLS, Hassenstab J, Ibanez L, Supnet-Bell C, Xiong C, Allegri R, Berman SB, Fox NC, Ryan NS, Huey ED, Vöglein J, Noble JM, Roh JH, Jucker M, Laske C, Ikeuchi T, Sanchez-Valle R, Schofield PR, Mendez PC, Chhatwal JP, Farlow M, Lee JH, Levey AI, Levin J, Lopera F, Martins R, Niimi Y, Rosa-Neto P, Morris JC, Bateman RJ, Karch CM, Cruchaga C, McDade E, Llibre-Guerra JJ.   +51 more
europepmc   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis. [PDF]

J Exp Med
Iwata T, Mizoguchi Y, Yoshimoto T, Tsumura M, Sakura F, Johnson JR, Matsuda S, Ouhara K, Nagatani Y, Asano T, Ohnishi H, Kato Z, Mihara K, Kanegane H, Ueda T, Sasaki S, Taniguchi Y, Ninomiya Y, Ohno Y, Suzuki-Takedachi K, Sotomaru Y, Sakuma T, Yamamoto T, Matsuda Y, Kume K, Sanui T, Nishimura F, Kajiya M, Ueki Y, Kurihara H, Morino H, Okada S, Kawakami H, Mizuno N.   +33 more
europepmc   +1 more source

Familial Type C Syndrome of Insulin Resistance and Short Stature with Possible Autosomal Dominant Transmission.

, 1989
Fumiko Nakamura, Masato Taira, Naotake Hashimoto, Hideichi Makino, Nozomu Sasaki   +4 more
openalex   +2 more sources