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1 de may. de 2024 · In general global response to DNA damage involves expression of multiple genes responsible for postreplication repair, homologous recombination, nucleotide excision repair, DNA damage checkpoint, global transcriptional activation, genes controlling mRNA decay, and many others.
26 de abr. de 2024 · In a patient with compound heterozygous mutations in Diphthamide Biosynthesis 1 (DPH1) and impaired eEF2 diphthamide modification, we observe multiple defects in neural crest (NC)-derived...
Hace 4 días · Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a genetic disorder characterized by impaired production of cortisol in the adrenal glands. [1] It is classified as an inherited metabolic disorder.
Hace 5 días · Lack of dynein arms, which are structures that form temporary cross-bridges between adjacent ciliary filaments and are believed to be responsible for generating movement in cilia and sperm tails, remains the most common defect identified (Type 1) and the one classically associated with Kartagener Syndrome.
15 de abr. de 2024 · Is Mesothelioma Hereditary? Mesothelioma disease is not hereditary, but it’s possible to inherit genetic risk factors. A person born with a mutated BAP1 gene has more risk of developing mesothelioma. Asbestos exposure is the leading cause of mesothelioma. The BAP1 gene mutation can also develop later in life as cells become malignant.
3 de may. de 2024 · Prader-Willi syndrome (PWS) is a disorder caused by a deletion or disruption of genes in the proximal arm of chromosome 15 or by maternal disomy in the proximal arm of chromosome 15.
Hace 3 días · A birth defect (also called a congenital defect) is a physical or physiological abnormality present in a baby at birth. Birth defects can be caused by genetic factors, prenatal events during pregnancy or a combination of both. Some birth defects are easy to see (such as an extra or missing finger), while others (such as an enzyme deficiency ...
