Results 81 to 90 of about 930 (131)

Repeated intratracheal instillation of whole‐cigarette smoke condensate to assess lung damage in a rat model

Environmental Toxicology, Volume 39, Issue 4, Page 2304-2315, April 2024.
Abstract Cigarette smoke induces an inflammatory response in the lungs by recruiting inflammatory cells, leading to lung diseases such as lung cancer, chronic obstructive pulmonary disease, and pulmonary fibrosis. Existing inhalation exposure methods for assessing the adverse effects of cigarette smoke require expensive equipment and are labor ...
Jinhee Kim, Yoon Cho, Gi‐Jun Oh, Hae‐Bin Park, Mi Jin Yang, Chul‐Min Park, Yong‐Hyun Kim, Kyung‐Chul Choi, Ryeo‐Eun Go, Min‐Seok Kim   +9 more
wiley   +1 more source

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

, 2015
Short-rib thoracic dystrophies (SRTDs) are congenital disorders due to defects in primary cilium function. SRTDs are recessively inherited with mutations identified in 14 genes to date (comprising 398 exons).
Zankl, A., P.J. Leo, Gardiner, B., C. Wicking, Kinning, Esther, Kinning, E., Brown, M. A., A.M. McInerney‐Leo, Duncan, Emma, Marshall, M. S., Zanki, Andreas, B. Gardiner, E. Kinning, Brown, Matthew A., Ong, PeiTee, Wicking, C., Wicking, Carol A., McKenzie, F., Duncan, E. L., F. McKenzie, Ong, W. P., A. Zankl, McInerney-Leo, A. M., M.A. Brown, Leo, P. J., Leong, H. Y., McInerney-Leo, Aideen, Harris, Jessica E., Gardiner, Brooke, Leo, Paul, Marshall, Mhairi, Harris, J. E., Vodopiutz, J., M.S. Marshall, McKenzie, Fiona, J.E. Harris, Vodopiutz, Julia, J. Vodopiutz, Leong, Huey Yin, E.L. Duncan, W.P. Ong, H.Y. Leong   +41 more
core   +1 more source

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia [PDF]

, 2018
Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder characterized by destructive respiratory disease and laterality abnormalities due to randomized left-right body asymmetry.
Frost, E, Patel, M, Jenkins, L, Aubusson-Fleury, A, Fassad, MR, Lemullois, M, Hogg, C, Koll, F, Cullup, T, Mitchison, HM, Mitchell, DR, Dixon, M, Shoemark, A, Tassin, A-M, le Borgne, P, Chung, EMK, Hayward, J, Richardson, C   +17 more
core   +2 more sources

Prognostic value and clinical utility of a six-gene signature for aggressive prostate cancer among clinically low or intermediate risk patients.

Journal of Clinical Oncology
381 Background: Prostate cancer (PCa) is diagnosed in approximately 1.5 million men worldwide each year. Many men have clinically low or intermediate risk PCa and can be managed with active surveillance (AS).
A. Krzyzanowska, S. Barron, D. Higgins, T. Loughman, Angel Chan-Ju Wang, B. Fender, L. McGuire, A. O'Neill, D. O'Leary, W. Watson, A. Bjartell, William M. Gallagher   +11 more
semanticscholar   +1 more source

Approche génomique des maladies rénales indéterminées malgré biopsie rénale

, 2022
Introduction : les maladies rénales chroniques (MRC) d’origine indéterminée représentent près de 20% des insuffisances rénales chroniques (IRC) en France.
Greillier, Sophie
core  

Expression of Ttc21b.

, 2017
Ttc21blacZ expression at E6.5-E10.5. Frontal views are shown in B,D,F,H.
John Snedeker (3836410), Ching-Fang Chang (3325185), Rolf W. Stottmann (207347), Pamela V. Tran (3836404), Jamie N. Struve (3836407), Elizabeth N. Schock (3836401), Megan Cionni (679295), Samantha A. Brugmann (170988)   +7 more
core   +1 more source

Single-cell, whole-embryo phenotyping of mammalian developmental disorders. [PDF]

Nature, 2023
Huang X, Henck J, Qiu C, Sreenivasan VKA, Balachandran S, Amarie OV, Hrabě de Angelis M, Behncke RY, Chan WL, Despang A, Dickel DE, Duran M, Feuchtinger A, Fuchs H, Gailus-Durner V, Haag N, Hägerling R, Hansmeier N, Hennig F, Marshall C, Rajderkar S, Ringel A, Robson M, Saunders LM, da Silva-Buttkus P, Spielmann N, Srivatsan SR, Ulferts S, Wittler L, Zhu Y, Kalscheuer VM, Ibrahim DM, Kurth I, Kornak U, Visel A, Pennacchio LA, Beier DR, Trapnell C, Cao J, Shendure J, Spielmann M.   +40 more
europepmc   +1 more source

Molecular study of idiopathic nephrotic syndrome [PDF]

, 2016
Aquesta tesi és una contribució al coneixement de les bases moleculars de la síndrome nefròtica idiopàtica concretament, la nefropatia membranosa idiopàtica i la síndrome nefròtica córtico-resistent (SNCR) o glomeruloesclerosis segmentària i focal (GESF).
Bullich Vilanova, Gemma, Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia, Nogués, Carme   +2 more
core  

The emerging role of microtubules in the pathophysiology of herediterian podocytopathies

, 2015
L’étude des formes familiales de syndrome néphrotique (SN) ou de protéinurie glomérulaire avec lésions histologiques de hyalinose segmentaire et focale (HSF) a permis d’incriminer plus d’une vingtaine de gènes, majoritairement exprimés par le podocyte ...
Huynh Cong, Evelyne
core  

[Clinical phenotype characteristics and genetic analysis in children with nephronophthisis and related syndromes caused by different gene mutations]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi, 2023
Zhao X, Jiang LJ, Rong ZH, Dou ZY, Su QX, Liang YH, Qi XJ.   +6 more
europepmc   +1 more source