Loss-of-function loss-of-function mutation loss-of-function mutation loss-of-function mutation loss-of-function mutation loss-of-function mutation loss-of-head gage Loss-of-Income Loss-of-income insurance Loss-Of-Load-Probability Loss-of-Lock Reset Enable Loss-Of-Pumping Accident Loss-Of-Pumping...
Further studies are needed to assess the prevalence of CABLES1 mutations among patients with other types of pituitary adenomas and to elucidate the pituitary-specific functions of this gene. Keywords: Cushing’s disease; corticotropinoma; whole-exome sequencing; germline mutation; Editor's Choice ...
Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be valuable indicators of gene function and the potential toxicity of therapeutic inhibit
The male sterility1 mutation results in mature anthers that are devoid of pollen. and early progress normally; however, after microspore release, the microspore and tapetum become abnormally granular and vacuolated, and degeneration occurs. Pollen wall is seriously affected; primexine formation within...
Current research estimates that 1% of all human genes have a function in hearing. To date, mutations in over 80 genes have been reported to cause nonsyndromic hearing loss (NSHL). Strikingly, more than a quarter of all known genes related to NSHL were discovered in the past 5 years via ...
We use essential cookies to make sure the site can function. We also use optional cookies for advertising, personalisation of content, usage analysis, and social media. By accepting optional cookies, you consent to the processing of your personal data - including transfers to third parties. Some...
Audiologic presentation of enlargement of the vestibular aqueduct according to the SLC26A4 genotypes. Laryngoscope. 2015;125(6):E216-E222.PubMedGoogle ScholarCrossref 31. Hwa HL, Ko TM, Hsu CJ, et al. Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual...
In P. falciparum, the presence of a frameshift mutation eliminates translation of the majority of the protein, including both DBL domains, unlike the homologous protein in Plasmodium reichenowi (PrEBA165) or the major P. falciparum glycophorin binding protein, PfEBA175. The dashed/faded region ...
(t-IgH)5,6,7. However, newer technologies have shown that other genetic changes also play a role in MM, meaning that MM patients cannot be simply divided into two categories based on these two events. In addition, some patients don’t present either of these events, and some present ...
We use essential cookies to make sure the site can function. We also use optional cookies for advertising, personalisation of content, usage analysis, and social media. By accepting optional cookies, you consent to the processing of your personal data - including transfers to third parties. Some...