Multiple mutations in < em > BADH2 < /em > gene reveal the novel fragrance allele in indica rice ( < em > Oryza sativa L. < /em > )
J Genet. 2024;103:13.ABSTRACTThe aroma in rice is the most appreciable quality trait, controlled by the loss of function of the betaine aldehyde dehydrogenase 2 (BADH2) gene. In the present study, indica rice cultivars (basmati, nonbasmati aromatic, and nonaromatic) were screened to explore allelic differences in the BADH2 gene using two functional markers (badh2-p-5'UTR and FMbadh2-E7). Notably, the results of the present mutational analysis showed that both markers confirmed a different mutation in indica rice cultivars than earlier reported japonica accessions. It was found that there is 250-bp deletion in the promoter ...
Source: Journal of Genetics - April 2, 2024 Category: Genetics & Stem Cells Authors: Sonali Chandanshive Sarika Mathure Altafhusain Nadaf Source Type: research

Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein
In this study, we expand the spectrum of FRMPD4 variants and suggest that the clinical awareness of the genetic diagnosis of nonsyndromic ID should be strengthened.PMID:38562040 (Source: Journal of Genetics)
Source: Journal of Genetics - April 2, 2024 Category: Genetics & Stem Cells Authors: Hua Pan Feng Zhu Kun Chen Yin Zhang Source Type: research

Multiple mutations in < em > BADH2 < /em > gene reveal the novel fragrance allele in indica rice ( < em > Oryza sativa L. < /em > )
J Genet. 2024;103:13.ABSTRACTThe aroma in rice is the most appreciable quality trait, controlled by the loss of function of the betaine aldehyde dehydrogenase 2 (BADH2) gene. In the present study, indica rice cultivars (basmati, nonbasmati aromatic, and nonaromatic) were screened to explore allelic differences in the BADH2 gene using two functional markers (badh2-p-5'UTR and FMbadh2-E7). Notably, the results of the present mutational analysis showed that both markers confirmed a different mutation in indica rice cultivars than earlier reported japonica accessions. It was found that there is 250-bp deletion in the promoter ...
Source: Journal of Genetics - April 2, 2024 Category: Genetics & Stem Cells Authors: Sonali Chandanshive Sarika Mathure Altafhusain Nadaf Source Type: research

Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein
In this study, we expand the spectrum of FRMPD4 variants and suggest that the clinical awareness of the genetic diagnosis of nonsyndromic ID should be strengthened.PMID:38562040 (Source: Journal of Genetics)
Source: Journal of Genetics - April 2, 2024 Category: Genetics & Stem Cells Authors: Hua Pan Feng Zhu Kun Chen Yin Zhang Source Type: research

Multiple mutations in < em > BADH2 < /em > gene reveal the novel fragrance allele in indica rice ( < em > Oryza sativa L. < /em > )
J Genet. 2024;103:13.ABSTRACTThe aroma in rice is the most appreciable quality trait, controlled by the loss of function of the betaine aldehyde dehydrogenase 2 (BADH2) gene. In the present study, indica rice cultivars (basmati, nonbasmati aromatic, and nonaromatic) were screened to explore allelic differences in the BADH2 gene using two functional markers (badh2-p-5'UTR and FMbadh2-E7). Notably, the results of the present mutational analysis showed that both markers confirmed a different mutation in indica rice cultivars than earlier reported japonica accessions. It was found that there is 250-bp deletion in the promoter ...
Source: Journal of Genetics - April 2, 2024 Category: Genetics & Stem Cells Authors: Sonali Chandanshive Sarika Mathure Altafhusain Nadaf Source Type: research

Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein
In this study, we expand the spectrum of FRMPD4 variants and suggest that the clinical awareness of the genetic diagnosis of nonsyndromic ID should be strengthened.PMID:38562040 (Source: Journal of Genetics)
Source: Journal of Genetics - April 2, 2024 Category: Genetics & Stem Cells Authors: Hua Pan Feng Zhu Kun Chen Yin Zhang Source Type: research

Multiple mutations in < em > BADH2 < /em > gene reveal the novel fragrance allele in indica rice ( < em > Oryza sativa L. < /em > )
J Genet. 2024;103:13.ABSTRACTThe aroma in rice is the most appreciable quality trait, controlled by the loss of function of the betaine aldehyde dehydrogenase 2 (BADH2) gene. In the present study, indica rice cultivars (basmati, nonbasmati aromatic, and nonaromatic) were screened to explore allelic differences in the BADH2 gene using two functional markers (badh2-p-5'UTR and FMbadh2-E7). Notably, the results of the present mutational analysis showed that both markers confirmed a different mutation in indica rice cultivars than earlier reported japonica accessions. It was found that there is 250-bp deletion in the promoter ...
Source: Journal of Genetics - April 2, 2024 Category: Genetics & Stem Cells Authors: Sonali Chandanshive Sarika Mathure Altafhusain Nadaf Source Type: research

Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein
In this study, we expand the spectrum of FRMPD4 variants and suggest that the clinical awareness of the genetic diagnosis of nonsyndromic ID should be strengthened.PMID:38562040 (Source: Journal of Genetics)
Source: Journal of Genetics - April 2, 2024 Category: Genetics & Stem Cells Authors: Hua Pan Feng Zhu Kun Chen Yin Zhang Source Type: research

Multiple mutations in < em > BADH2 < /em > gene reveal the novel fragrance allele in indica rice ( < em > Oryza sativa L. < /em > )
J Genet. 2024;103:13.ABSTRACTThe aroma in rice is the most appreciable quality trait, controlled by the loss of function of the betaine aldehyde dehydrogenase 2 (BADH2) gene. In the present study, indica rice cultivars (basmati, nonbasmati aromatic, and nonaromatic) were screened to explore allelic differences in the BADH2 gene using two functional markers (badh2-p-5'UTR and FMbadh2-E7). Notably, the results of the present mutational analysis showed that both markers confirmed a different mutation in indica rice cultivars than earlier reported japonica accessions. It was found that there is 250-bp deletion in the promoter ...
Source: Journal of Genetics - April 2, 2024 Category: Genetics & Stem Cells Authors: Sonali Chandanshive Sarika Mathure Altafhusain Nadaf Source Type: research

Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein
In this study, we expand the spectrum of FRMPD4 variants and suggest that the clinical awareness of the genetic diagnosis of nonsyndromic ID should be strengthened.PMID:38562040 (Source: Journal of Genetics)
Source: Journal of Genetics - April 2, 2024 Category: Genetics & Stem Cells Authors: Hua Pan Feng Zhu Kun Chen Yin Zhang Source Type: research

Genomic determinants of antibody response to a typhoid vaccine in Indian recipients
J Genet. 2024;103:12.ABSTRACTTyphoid is endemic in India and has high global incidence. There were large outbreaks of typhoid in India between 1990 and 2018. Available typhoid vaccines induce variable levels of protective antibodies among recipients; thus, there is variability in response to the vaccine. Interindividual genomic differences is hypothesized to be a determinant of the variability in response. We studied the antibody response of ~1000 recipients of the Vi-polysaccharide typhoid vaccine from Kolkata, India, who showed considerable variability of antibody response, i.e., anti-Vi-polysaccharide antibody level 28 ...
Source: Journal of Genetics - March 5, 2024 Category: Genetics & Stem Cells Authors: Vijay Laxmi Roy Partha Pratim Majumder Source Type: research

Genomic determinants of antibody response to a typhoid vaccine in Indian recipients
J Genet. 2024;103:12.ABSTRACTTyphoid is endemic in India and has high global incidence. There were large outbreaks of typhoid in India between 1990 and 2018. Available typhoid vaccines induce variable levels of protective antibodies among recipients; thus, there is variability in response to the vaccine. Interindividual genomic differences is hypothesized to be a determinant of the variability in response. We studied the antibody response of ~1000 recipients of the Vi-polysaccharide typhoid vaccine from Kolkata, India, who showed considerable variability of antibody response, i.e., anti-Vi-polysaccharide antibody level 28 ...
Source: Journal of Genetics - March 5, 2024 Category: Genetics & Stem Cells Authors: Vijay Laxmi Roy Partha Pratim Majumder Source Type: research

Genomic determinants of antibody response to a typhoid vaccine in Indian recipients
J Genet. 2024;103:12.ABSTRACTTyphoid is endemic in India and has high global incidence. There were large outbreaks of typhoid in India between 1990 and 2018. Available typhoid vaccines induce variable levels of protective antibodies among recipients; thus, there is variability in response to the vaccine. Interindividual genomic differences is hypothesized to be a determinant of the variability in response. We studied the antibody response of ~1000 recipients of the Vi-polysaccharide typhoid vaccine from Kolkata, India, who showed considerable variability of antibody response, i.e., anti-Vi-polysaccharide antibody level 28 ...
Source: Journal of Genetics - March 5, 2024 Category: Genetics & Stem Cells Authors: Vijay Laxmi Roy Partha Pratim Majumder Source Type: research

Genomic determinants of antibody response to a typhoid vaccine in Indian recipients
J Genet. 2024;103:12.ABSTRACTTyphoid is endemic in India and has high global incidence. There were large outbreaks of typhoid in India between 1990 and 2018. Available typhoid vaccines induce variable levels of protective antibodies among recipients; thus, there is variability in response to the vaccine. Interindividual genomic differences is hypothesized to be a determinant of the variability in response. We studied the antibody response of ~1000 recipients of the Vi-polysaccharide typhoid vaccine from Kolkata, India, who showed considerable variability of antibody response, i.e., anti-Vi-polysaccharide antibody level 28 ...
Source: Journal of Genetics - March 5, 2024 Category: Genetics & Stem Cells Authors: Vijay Laxmi Roy Partha Pratim Majumder Source Type: research

Genomic determinants of antibody response to a typhoid vaccine in Indian recipients
J Genet. 2024;103:12.ABSTRACTTyphoid is endemic in India and has high global incidence. There were large outbreaks of typhoid in India between 1990 and 2018. Available typhoid vaccines induce variable levels of protective antibodies among recipients; thus, there is variability in response to the vaccine. Interindividual genomic differences is hypothesized to be a determinant of the variability in response. We studied the antibody response of ~1000 recipients of the Vi-polysaccharide typhoid vaccine from Kolkata, India, who showed considerable variability of antibody response, i.e., anti-Vi-polysaccharide antibody level 28 ...
Source: Journal of Genetics - March 5, 2024 Category: Genetics & Stem Cells Authors: Vijay Laxmi Roy Partha Pratim Majumder Source Type: research