Objective To explore the clinical and genetic mutation characteristics of familial platelet disorder with acute myeloid leukemia tendency (FPD/AML) caused by RUNX1 germline mutations.The clinical data ...

(CNN) — The sperm of a man carrying a rare genetic mutation linked to cancer was used to conceive scores of children across Europe, prompting calls for greater regulation and a limit on the number of ...

(CNN) — The sperm of a man carrying a rare genetic mutation linked to cancer was used to conceive scores of children across Europe, prompting calls for greater regulation and a limit on the ...

The genetic variant is described for the first time in a paper published May 15 in the journal Current Biology. “This is a really unusual type of mutation,” said lead study author Christopher ...

A recurrent frameshift mutation, F722fs, in the MMS22L gene was identified among Ashkenazi Jewish men and is associated with a significantly increased risk (odds ratio 4.9) of prostate cancer.

A strange genetic mutation has been discovered in wild jaguars, leaving scientists torn between excitement and concern. Is this evolution at work or a random genetic anomaly? In this video ...

In a global first, scientists have used advanced base editing to repair a deadly gene mutation in a newborn, marking a major leap forward in the treatment of rare inherited metabolic diseases.

Johns Hopkins Medicine-led research team believes the effect of the mutation and the number of people who carry it is similar to BRCA2 and other gene mutations that have been connected with an ...

Patched-1, or PTCH1, is a tumor suppressor gene, meaning it helps prevent certain types of cancers from developing. When you have a PTCH1 mutation, the gene’s cancer-suppressing effect no longer ...

of those CD-R with combined 3020insC and R702W mutations had increased intestinal permeability compared with only 15% of wild-types, indicating a genetic influence on barrier function. R702W and G908R ...

"ARHGAP36 is essential for development, with many other roles in the body, so I had never imagined it could be the orange gene. Mutations to the protein structure would likely be harmful to the ...