Results 71 to 80 of about 930 (131)

Additional file 8 of Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes

, 2022
Additional file 8: Table S4.
Chen, Weicheng, Wang, Feifei, Zeng, Weijia, Zhang, Xinyan, Shen, Libing, Zhang, Yuan, Zhou, Xiangyu   +6 more
openaire   +1 more source

Additional file 5 of Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes

, 2022
Additional file 5: Supplementary ...
Chen, Weicheng, Wang, Feifei, Zeng, Weijia, Zhang, Xinyan, Shen, Libing, Zhang, Yuan, Zhou, Xiangyu   +6 more
openaire   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 7, Page 76-87, October 2025.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review

Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.
Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes, Velda X. Han, Shrujna Patel, Michelle A. Farrar, Deepak Gill, Shekeeb S. Mohammad, Russell C. Dale   +6 more
wiley   +1 more source

Clinical validation of a biopsy‐based six‐gene signature prognostic for aggressive prostate cancer

BJUI Compass, Volume 6, Issue 1, January 2025.
Abstract Objectives This study aimed to clinically validate the six‐gene prognostic molecular clinical risk score (MCRS) for the prediction of aggressive prostate cancer in diagnostic biopsy tissue. Methods MCRS was evaluated in prostate biopsy tissue from a Swedish cohort of men with prostate cancer (UPCA, n = 100).
Agnieszka Krzyzanowska, Debra F. Higgins, Stephen Barron, Tony Loughman, Amanda O'Neill, Katherine M. Sheehan, Chan‐Ju Angel Wang, Bozena Fender, Leah McGuire, Joanna Fay, Anthony O'Grady, Des O'Leary, R. William Watson, Anders Bjartell, William M. Gallagher   +14 more
wiley   +1 more source

Deletion of Ttc21b from solely the developing forebrain does not lead to cortical malformation.

, 2017
(A-N) Emx1-Cre was used to delete a conditional allele of Ttc21b but does not lead to morphological (A,B,G,H,I,J), histological (C,D,K,L) or neural differentiation (immunohistochemistry for TuJI in E,F) phenotypes.
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

Exome Sequencing of a Blastomycosis Case–Control Cohort From Manitoba and Northwestern Ontario, Canada

Mycoses, Volume 67, Issue 9, September 2024.
ABSTRACT Background Blastomycosis is a pulmonary disease caused by Blastomyces spp., a group of pathogenic dimorphic fungi endemic to a number of geographic regions, specifically Manitoba and northwestern Ontario, Canada. Immunosuppression is a major risk factor affecting disease susceptibility, yet host immunity is not well understood.
Paul Jankowski, Emma R. Lee, John Embil, Yoav Keynan, Paul J. McLaren   +4 more
wiley   +1 more source

Deletion of Ttc21b from neural crest cells and surface ectoderm.

, 2017
(A-L) Wnt1-Cre mediated deletion of Ttc21b does not lead to morphological (A,B,G,H,I,J), histological (C,D,K,L) or neural differentiation (E,F) phenotypes in the forebrain at E14.5 (A-F) or E18.5 (G-L).
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

Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis [PDF]

, 2012
International audienceNephronophtisis (NPH) is a kidney ciliopathy often associated with extra-renal defects and for which 12 genes (NPHP1-12) have been identified.
C Boyle-Feysot, C Antignac, S Saunier, T Blisnick, Rozet, Jean-Michel, Henneveu, Anthony, HH Arts, Boyle-Feysot, Christine, E Filhol, Montenont, Emilie, Blisnick, Thierry, Saunier, Sophie, Bizet, Albane, A., E Montenont, Benmerah, Alexandre, R., Bizet, Albane,, I Perrault, P Bastin, AR Benmerah, Filhol, Emilie, Benmerah, Alexandre,, Arts, Heleen,, Arts, Heleen, H., A Henneveu, AA Bizet, Silbermann, Flora, Bastin, Philippe, F Silbermann, J-M Rozet, Antignac, Corinne, Perrault, Isabelle   +30 more
core   +1 more source

Cancer‐associated fibroblast‐derived colony‐stimulating factor 2 confers acquired osimertinib resistance in lung adenocarcinoma via promoting ribosome biosynthesis

MedComm, Volume 5, Issue 8, August 2024.
Illustration of CAFOR‐derived CSF2 mediating lnc‐CSRNP3 activation in LUAD cells to induce osimertinib resistance. CAFOR‐derived CSF2 was essential for osimertinib resistance by modulating the JAK2/STAT3/lnc‐CSRNP3 axis. Lnc‐CSRNP3 directly binds to CHD9, promotes CSRNP3 gene expression, and inhibits the phosphatase activity of PP1α, thereby inducing ...
Yutang Huang, Xiaoqing Wang, Chunjie Wen, Jingchan Wang, Honghao Zhou, Lanxiang Wu   +5 more
wiley   +1 more source