Results 301 to 310 of about 314,978 (365)

A century of theories of balancing selection

open access: yesBiological Reviews, EarlyView.
ABSTRACT Traits that affect organismal fitness are often highly genetically variable. This genetic variation is vital for populations to adapt to their environments, but it is also surprising given that nature – after all – ‘selects’ the best genotypes at the expense of those that fall short.
Filip Ruzicka   +10 more
wiley   +1 more source

Unraveling the causal landscape of intervertebral disc degeneration: A Mendelian randomization analysis of 108 traits. [PDF]

open access: yesMedicine (Baltimore)
Zeng B   +10 more
europepmc   +1 more source

Spatial Location of SPP1+TAMs and Mutually Exclusive Subsets Based on Single‐Cell and Transcriptome Data

open access: yesCancer Science, EarlyView.
This study indicates that SPP1, as an important regulator of tumor progression, is upregulated in various tumors and has been associated with a poor prognosis. SPP1+M2 has a unique spatial location at the forefront of tumor invasion and metastasis, thereby promoting tumor progression. MARCO+M2, which forms a mutually exclusive relationship with SPP1+M2,
Xuan Luo   +15 more
wiley   +1 more source

Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health

open access: yesClinical Genetics, EarlyView.
In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima   +8 more
wiley   +1 more source

Blurring the Lines: Co‐Occurrence of MSH6 Variant and MLH1 Constitutional Epimutation in a Young Colorectal Cancer Patient

open access: yesClinical Genetics, EarlyView.
We report a unique case of early‐onset colorectal cancer with both a germline MSH6 variant and constitutional mosaic MLH1 epimutation, revealing a possible digenic mechanism underlying Lynch syndrome. This case highlights the diagnostic complexity of mismatch repair deficiency and the value of integrative tumor–germline molecular profiling.
Aasem Abu Shtaya   +7 more
wiley   +1 more source

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