Ancestry-inclusive dog genomics challenges popular breed stereotypes
Behavioral genetics in dogs has focused on modern breeds, which are isolated subgroups
with distinctive physical and, purportedly, behavioral characteristics. We interrogated breed …
with distinctive physical and, purportedly, behavioral characteristics. We interrogated breed …
Update on recommendations for cancer screening and surveillance in children with genomic instability disorders
Y Nakano, RP Kuiper, KE Nichols… - Clinical Cancer …, 2024 - aacrjournals.org
Genomic instability disorders are characterized by DNA or chromosomal instability, resulting
in various clinical manifestations, including developmental anomalies, immunodeficiency …
in various clinical manifestations, including developmental anomalies, immunodeficiency …
Premature aging disorders: A clinical and genetic compendium
F Schnabel, U Kornak, B Wollnik - Clinical Genetics, 2021 - Wiley Online Library
Progeroid disorders make up a heterogeneous group of very rare hereditary diseases
characterized by clinical signs that often mimic physiological aging in a premature manner …
characterized by clinical signs that often mimic physiological aging in a premature manner …
[HTML][HTML] The role of Anaphase Promoting Complex activation, inhibition and substrates in cancer development and progression
Abstract The Anaphase Promoting Complex (APC), a multi-subunit ubiquitin ligase,
facilitates mitotic and G1 progression, and is now recognized to play a role in maintaining …
facilitates mitotic and G1 progression, and is now recognized to play a role in maintaining …
Congenital diseases of DNA replication: clinical phenotypes and molecular mechanisms
M Schmit, AK Bielinsky - International journal of molecular sciences, 2021 - mdpi.com
Deoxyribonucleic acid (DNA) replication can be divided into three major steps: initiation,
elongation and termination. Each time a human cell divides, these steps must be …
elongation and termination. Each time a human cell divides, these steps must be …
[HTML][HTML] Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence
Abstract Purpose Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma,
sparse hair, small stature, skeletal defects, cancer, and cataracts, resembling features of …
sparse hair, small stature, skeletal defects, cancer, and cataracts, resembling features of …
Role and regulation of the RECQL4 family during genomic integrity maintenance
TT Luong, KA Bernstein - Genes, 2021 - mdpi.com
RECQL4 is a member of the evolutionarily conserved RecQ family of 3'to 5'DNA helicases.
RECQL4 is critical for maintaining genomic stability through its functions in DNA repair …
RECQL4 is critical for maintaining genomic stability through its functions in DNA repair …
[HTML][HTML] Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome
Rothmund-Thomson syndrome (RTS) is an autosomal recessive genetic disorder
characterized by poikiloderma, small stature, skeletal anomalies, sparse brows/lashes …
characterized by poikiloderma, small stature, skeletal anomalies, sparse brows/lashes …
Genome-wide association screening determines peripheral players in male fertility maintenance
Deciphering the functional relationships of genes resulting from genome-wide screens for
polymorphisms that are associated with phenotypic variations can be challenging. However …
polymorphisms that are associated with phenotypic variations can be challenging. However …
[HTML][HTML] Rothmund-thomson syndrome
LL Wang, SE Plon - 2020 - europepmc.org
Rothmund-Thomson syndrome (RTS) is characterized by a rash that progresses to
poikiloderma; sparse hair, eyelashes, and/or eyebrows; small size; skeletal and dental …
poikiloderma; sparse hair, eyelashes, and/or eyebrows; small size; skeletal and dental …