Results 181 to 190 of about 1,681,459 (298)

A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy. [PDF]

Calcif Tissue Int
Lim WT, Nenke M, Rawlings L, Wells A, Vakulin C, Waters W, De Sousa S.   +6 more
europepmc   +1 more source

THE INFLUENCE OF CHRONIC IRRADIATION WITH GAMMA-RAYS AT LOW DOSAGES ON THE MUTATION RATE IN DROSOPHILA MELANOGASTER [PDF]

, 1948
Ernst Caspari, Curt Stern
openalex   +1 more source

A nucleotide‐independent, pan‐RAS‐targeted DARPin elicits anti‐tumor activity in a multimodal manner

Molecular Oncology, EarlyView.
We report a Designed Ankyrin Repeat Protein that binds and inhibits RAS proteins, which serve as central cell signaling hubs and are essential for the progression of many cancers. Its unique feature is that it does not discriminate between different RAS isoforms or mutations and is capable of binding to RAS in both its active (GTP‐bound) and inactive ...
Jonas N. Kapp, Wouter P. R. Verdurmen, Jonas V. Schaefer, Kari Kopra, Gabriela Nagy‐Davidescu, Elodie Richard, Marie‐Julie Nokin, Patrick Ernst, Rastislav Tamaskovic, Martin Schwill, Ralph Degen, Claudia Scholl, David Santamaria, Andreas Plückthun   +13 more
wiley   +1 more source

THE MORPHOLOGICAL MANIFESTATIONS OF A DOMINANT MUTATION IN MICE AFFECTING TAIL AND UROGENITAL SYSTEM [PDF]

, 1943
S. Gluecksohn‐Schoenheimer
openalex   +1 more source

Mutational retracts and extensions of mutations [PDF]

Fundamenta Mathematicae, 1974
openaire   +2 more sources

Unraveling LINE‐1 retrotransposition in head and neck squamous cell carcinoma

Molecular Oncology, EarlyView.
The novel RetroTest method allows the detection of L1 activation in clinical samples with low DNA input, providing global L1 activity and the identification of the L1 source element. We applied RetroTest to a real‐world cohort of HNSCC patients where we reported an early L1 activation, with more than 60% of T1 patients showing L1 activity.
Jenifer Brea‐Iglesias, Ana Oitabén, Sonia Zumalave, Bernardo Rodriguez‐Martin, María Gallardo‐Gómez, Martín Santamarina, Ana Pequeño‐Valtierra, Laura Juaneda‐Magdalena, Ramón García‐Escudero, José Luis López‐Cedrún, Máximo Fraga, José M. C. Tubio, Mónica Martínez‐Fernández   +12 more
wiley   +1 more source

Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations. [PDF]

Ital J Pediatr
Wang X, Wang S, Qi H, Wu B, He M, Zhang G.   +5 more
europepmc   +1 more source

Mutation in Matthiola Annua, A "Mendelizing" Species

, 1916
Howard B. Frost
openalex   +2 more sources

SPONTANEOUS MUTATION AT THE R LOCUS IN MAIZE. I. THE ALEURONE-COLOR AND PLANT-COLOR EFFECTS [PDF]

, 1946
L. J. Stadler
openalex   +1 more source

BMP antagonist CHRDL2 enhances the cancer stem‐cell phenotype and increases chemotherapy resistance in colorectal cancer

Molecular Oncology, EarlyView.
Overexpression of CHRDL2 in colon cancer cells makes them more stem‐like and resistant to chemo‐ and radiotherapy. CHRDL2‐high cells have upregulation of the WNT pathway, genes involved in the DNA damage response (DDR) pathway and epithelial‐to‐mesenchymal transition (EMT). This leads to quicker repair of damaged DNA and more cell migration.
Eloise Clarkson, Annabelle Lewis
wiley   +1 more source