Results 41 to 50 of about 930 (131)

Chemistry-first approach for nomination of personalized treatment in lung cancer

Cell, 2018
Summary Diversity in the genetic lesions that cause cancer is extreme. In consequence, a pressing challenge is the development of drugs that target patient-specific disease mechanisms.
Elizabeth A. McMillan, Myung‐Jeom Ryu, Caroline H. Diep, Saurabh Mendiratta, Jean R. Clemenceau, Rachel M. Vaden, Ju-hwa Kim, Takashi Motoyaji, K. Covington, M. Peyton, K. Huffman, Xiaofeng Wu, L. Girard, Yeojin Sung, Pei-Hsuan Chen, Prema L Mallipeddi, Joo Young Lee, Jordan M Hanson, Sukesh Voruganti, Yu-Ting Yu, Sunho Park, J. Sudderth, Christopher G. DeSevo, D. Muzny, H. Doddapaneni, Adi Gazdar, R. Gibbs, T. Hwang, J. Heymach, I. Wistuba, K. Coombes, N. Williams, D. Wheeler, J. MacMillan, R. DeBerardinis, Michael Roth, B. Posner, J. Minna, Hyun Seok Kim, M. White   +39 more
semanticscholar   +2 more sources

Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease [PDF]

, 2022
\ua9 2022 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC.Monogenic disorders of the kidney typically affect either the glomerular or tubulointerstitial compartment producing a ...
Pickles C, Mabillard H, Sayer JA, Tse Y, Phakdeekitcharoen P, Caliskan Y, Olinger E, Orr S, Wood K   +8 more
core   +4 more sources

Case report of visual quality in a patient with nephronophthisis 12- associated retinopathy secondary to TTC21B mutation

Documenta Ophthalmologica
Nephronophthisis 12 is a rare condition and only two cases have been reported to associate with retinopathy. Herein we present the third case in scientific literature, and the first with vision-quality exams.The case was a 28-year-old male with the mutations c.626C > T (p.Pro209Leu) and c.1317T > G (p.Tyr439*). Bilateral atrophy of outer retinal layers
Francisco de Asís Bartol-Puyal, B. Cordón, E. Vilades, S. Méndez-Martínez, Óscar Ruiz Moreno, Luis Pablo   +5 more
semanticscholar   +5 more sources

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. [PDF]

Journal of the American Society of Nephrology, 2014
Several genes, mainly involved in podocyte cytoskeleton regulation, have been implicated in familial forms of primary FSGS. We identified a homozygous missense mutation (p.P209L) in the TTC21B gene in seven families with FSGS. Mutations in this ciliary gene were previously reported to cause nephronophthisis, a chronic tubulointerstitial nephropathy ...
Evelyne Huynh Cong, A. Bizet, O. Boyer, Stephanie L. Woerner, O. Gribouval, E. Filhol, Christelle Arrondel, S. Thomas, F. Silbermann, G. Canaud, J. Hachicha, N. Ben Dhia, M. Peraldi, K. Harzallah, D. Iftene, L. Daniel, M. Willems, L. Noel, C. Bôle-Feysot, P. Nitschké, M. Gubler, G. Mollet, S. Saunier, C. Antignac   +23 more
semanticscholar   +3 more sources

Genetic risk factor identification for common epilepsies guided by integrative omics data analysis. [PDF]

Epilepsia
Abstract Objective Genetic generalized epilepsies (GGEs) comprise the most common genetically determined epilepsy syndromes, following a complex mode of inheritance. Although many important common and rare genetic factors causing or contributing to these epilepsies have been identified in the past decades, many features of the genetic architecture are ...
Mushunuri A, Adesoji O, Krause R, May P, Lerche H, Becker A, Grimm D, International League Against Epilepsy Consortium on Complex Epilepsies, Nothnagel M, Schulz H.   +9 more
europepmc   +2 more sources

Genome-Wide Meta-Analysis Identifies Two Novel Risk Loci for Epilepsy

Frontiers in Neuroscience, 2021
Epilepsy (affects about 70 million people worldwide) is one of the most prevalent brain disorders and imposes a huge economic burden on society. Epilepsy has a strong genetic component.
Meng Song, Meng Song, Jiewei Liu, Yongfeng Yang, Yongfeng Yang, Luxian Lv, Luxian Lv, Wenqiang Li, Wenqiang Li, Xiong-Jian Luo, Xiong-Jian Luo, Xiong-Jian Luo   +11 more
doaj   +1 more source

Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum [PDF]

Nature Genetics, 2011
E. Davis, Qi Zhang, Qin Liu, B. Diplas, Lisa M. Davey, J. Hartley, C. Stoetzel, K. Szymanska, G. Ramaswami, Clare V. Logan, D. Muzny, Alice C. Young, D. Wheeler, P. Cruz, Margaret B. Morgan, Lora R. Lewis, Praveen F. Cherukuri, B. Maskeri, N. Hansen, J. Mullikin, R. Blakesley, G. Bouffard, G. Gyapay, S. Rieger, B. Tönshoff, Ilse Kern, Neveen A. Soliman, T. Neuhaus, K. Swoboda, H. Kayserili, Tomas E. Gallagher, R. Lewis, C. Bergmann, E. Otto, S. Saunier, P. Scambler, P. Beales, J. Gleeson, E. Maher, T. Attié-Bitach, H. Dollfus, Colin A. Johnson, E. Green, R. Gibbs, F. Hildebrandt, E. Pierce, N. Katsanis   +46 more
semanticscholar   +2 more sources

Complex epilepsy phenotype associated with chromosome 2q24.2-q24.3 deletion involving sodium channel gene cluster. [PDF]

Ann Child Neurol Soc
Abstract Objective The 2q24.2‐24.3 chromosome region encodes sodium channel genes important in severe childhood epilepsy, notably SCN1A linked to Dravet syndrome (DS). However, the roles of other genes, either within the SCN cluster or in the segments proximal to it, have not been clearly delineated.
Madan R, Guido FS, Brescia N.
europepmc   +2 more sources

A Novel <i>LAMA5</i> Variant in Adult-Onset Focal Segmental Glomerulosclerosis: A Case Report. [PDF]

Case Rep Genet
Focal segmental glomerulosclerosis (FSGS) is a common histopathological diagnosis among adult patients presenting with nephrotic syndrome. This pattern is associated with diverse underlying pathophysiological mechanisms, which may influence disease management, therapeutic response, and prognosis.
Dahlan RA, Fairoozy RH.
europepmc   +2 more sources

Genome-Wide Association Study of Leukocyte Traits Reveals Candidate Genes Associated With Immunity in Holstein Cattle From Southern China. [PDF]

Vet Med Sci
A genome‐wide association study (GWAS) was conducted to analyse variations in white blood cell (WBC) counts and composition traits among 200 Holstein cows in Southern China. The results identified two candidate genes, BEND5 and FOXJ3, associated with WBC count, lymphocyte percentage and basophil percentage.
Liu C, Yu J, Zhong Z, Hu X, Xiang M, Du X, Latif MA, Wang W, Shi L, Chen H, Cheng L.   +10 more
europepmc   +2 more sources