Results 211 to 220 of about 427,618 (269)

E2A selectively regulates TGF‐β–induced apoptosis in KRAS‐mutant non‐small cell lung cancer

Molecular Oncology, EarlyView.
Ability to induce apoptosis by TGF‐β is frequently lost in advanced lung adenocarcinoma despite intact TGF‐β signaling. We identify E2A as a mutant KRAS–dependent mediator of resistance to TGF‐β–induced apoptosis. TGF‐β induces E2A via SMAD3 in mutant KRAS cells, and E2A silencing restores apoptosis and enhances radiation response in cell lines ...
Sergei Chuikov, Shiva Krishna Katkam, Zhefan Wang, Venkateshwar G. Keshamouni   +3 more
wiley   +1 more source

A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family. [PDF]

Neurogenetics
Maiga AB, Arama A, Yalcouyé A, Albakaye M, Weizhen J, Bamba S, Traoré O, Sangaré M, Kotioumbé M, Djimdé SO, Goita MK, Diarra S, Khokha MK, Lakhani SA, Landouré G.   +14 more
europepmc   +1 more source

KDM7A and KDM1A inhibition suppresses tumour promoting pathways in prostate cancer

Molecular Oncology, EarlyView.
Treatment resistance is a major challenge for patients with advanced prostate cancer. This study examined an alternative approach to target the major prostate cancer‐promoting pathway by targeting epigenetic factors, whose levels are higher in tumours.
Jennie N Jeyapalan, Veronika M Metzler, Simone de Brot, Corinne L Woodcock, Anna E Harris, Jennifer Lothion‐Roy, Emeli M Nilsson, Atara Ntekim, Michael S Toss, Jenny L Persson, Francesca Khani, Brian D Robinson, Lorraine J Gudas, Emad Rakha, David M Heery, Catrin S Rutland, Nigel P Mongan   +16 more
wiley   +1 more source

A child of congenital muscular dystrophy-dystroglycanopathy with a novel variant in the <i>CRPPA</i> gene: a case report and literature review. [PDF]

Transl Pediatr
Zhang S, Wu M, Li X, Wang S, Zhai R, Li L, Li Z, Guo Q.   +7 more
europepmc   +1 more source

Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies. [PDF]

Arch Iran Med
Alagha P, Akhtarkhavari T, Shokouhian E, Ghodratpour F, Arzhangi S, Najmabadi H, Kahrizi K.   +6 more
europepmc   +1 more source

Case Report: Successful treatment of a novel variant of <i>CARD14</i>-mutated juvenile Pityriasis rubra pilaris with ixekizumab. [PDF]

Front Med (Lausanne)
Millak L, Hahn M, Fischer J, Volc S.
europepmc   +1 more source

Two novel variant allele of the RHD gene detected in two Chinese blood donors with the RHD negative phenotype. [PDF]

Transfus Med
Mo Q, Liu X, Lai M, Lai R, Chen L, He B.
europepmc   +1 more source

Letter to the Editor in response to: "ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis". [PDF]

JPGN Rep
Pepe A, Mandato C.
europepmc   +1 more source

A Case of 17β-Hydroxysteroid Dehydrogenase Type 10 (HSD10) Disease Caused by a Novel Variant Presenting With Rapidly Progressive Cardiomyopathy Triggered by Viral Infection. [PDF]

Cureus
Kubo R, Iwamoto Y, Ajihara S, Murayama K, Ohtake A, Fujinuma S, Sugiyama K, Ishido H, Korematsu S, Masutani S.   +9 more
europepmc   +1 more source

CFHR5 Nephropathy Case Report: A Novel Variant Characterized by Tubulointerstitial Kidney Disease.

Kidney Blood Press Res
Santarsiere R, Florio G, Gonnella A, D'Angiò P, Laurino S, Zacchia M, Del Vecchio Blanco F, Perna AF, Trepiccione F, Gigliotti G.   +9 more
europepmc   +1 more source