Defending the genome from the enemy within:mechanisms of retrotransposon suppression in the mouse germline [PDF]
, 2013 The viability of any species requires that the genome is kept stable as it is transmitted from generation to generation by the germ cells. One of the challenges to transgenerational genome stability is the potential mutagenic activity of transposable ...
A Aravin +241 more
core +2 more sources
Germline PTPRD mutations in Ewing sarcoma: biologic and clinical implications. [PDF]
, 2013 Ewing sarcoma occurs in children, adolescents and young adults. High STAT3 levels have been reported in approximately 50% of patients with Ewing sarcoma, and may be important in tumorigenesis.
Anderson, Peter M +9 more
core +3 more sources
Annals of Global Health, 2023 We convened an international working group to examine the issues that challenge equity and inclusion in genetic medicine. Specifically, 72 internationally known experts in oncology and cancer genetics from 34 countries (the Global Oncology Medical ...
Ghassan K. Abou-Alfa +2 more
doaj +1 more source
Corticotropinoma as a Component of Carney Complex. [PDF]
, 2017 Known germline gene abnormalities cause one-fifth of the pituitary adenomas in children and adolescents, but, in contrast with other pituitary tumor types, the genetic causes of corticotropinomas are largely unknown.
Chittiboina, Prashant +11 more
core +2 more sources
Virus-transformed pre-B cells show ordered activation but not inactivation of immunoglobulin gene rearrangement and transcription [PDF]
, 1991 Virus-transformed pre-B cells undergo ordered immunoglobulin (Ig) gene rearrangements during culture. We devised a series of highly sensitive polymerase chain reaction assays for Ig gene rearrangement and unrearranged Ig gene segment transcription to ...
Baltimore, David +2 more
core +5 more sources
Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. [PDF]
, 2013 We sequenced 11 germline exomes from five families with familial pancreatic cancer (FPC). One proband had a germline nonsense variant in ATM with somatic loss of the variant allele. Another proband had a nonsense variant in PALB2 with somatic loss of the
Al-Sukhni, Wigdan +12 more
core +3 more sources
Phase Separation during Germline Development [PDF]
Trends in Cell Biology, 2021 Phase separation has emerged as a new key principle of intracellular organization. Phase-separated structures play diverse roles in various biological processes and pathogenesis of protein aggregation diseases. Recent work has revealed crucial functions for phase separation during germline development.
So, Chun, Cheng, Shiya, Schuh, Melina
openaire +4 more sources
eLife, 2021 Selection against deleterious mitochondrial mutations is facilitated by germline processes, lowering the risk of genetic diseases. How selection works is disputed: experimental data are conflicting and previous modeling work has not clarified the issues;
Marco Colnaghi +2 more
doaj +1 more source
Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations [PDF]
, 2015 Background: Retinoblastoma, the most common ocular cancer of childhood, is caused by inactivation of the RB1 tumor suppressor gene in the developing retina.
Alonso, Cristina +6 more
core +1 more source
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. [PDF]
, 2020 BackgroundThe contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood.
Bernstein, Daniel +23 more
core +3 more sources