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Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population
Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population
Primary microcephaly (MCPH) is an autosomal recessive condition of reduced head circumference due to a small cerebral cort...
On the reversibility of RNA deamination versus RNA methylation: exploring the proximate and ultimate causes
On the reversibility of RNA deamination versus RNA methylation: exploring the proximate and ultimate causes
RNA modifications play a crucial role in regulating gene expression, splicing, decoding, translation, and degradation. Amo...
Characteristics of the MAPK gene family in and role in response to fungal pathogen infection
Characteristics of the MAPK gene family in and role in response to fungal pathogen infection
The stems of Zizania latifolia, an important vegetable in China, are targeted by the pathogen Ustilago esculenta, triggeri...
Mitochondrial genome sequence of Bleeker, 1849 (Syngnathiformes, Syngnathidae) and its phylogenetic placement
Mitochondrial genome sequence of Bleeker, 1849 (Syngnathiformes, Syngnathidae) and its phylogenetic placement
The family Syngnathidae includes seahorses, sea dragons, and pipefishes. We sequenced the complete mitochondrial DNA (mtDN...
Comparative analysis of the mitochondrial genome of whip scorpion, (Butler, 1872) (Arachnida: Thelyphonidae) with phylogenetic implication
Comparative analysis of the mitochondrial genome of whip scorpion, (Butler, 1872) (Arachnida: Thelyphonidae) with phylogenetic implication
The complete mitogenome of the common Chinese whip scorpion, Typopeltis sinensis (Butler, 1872) was sequenced and compared...
A novel partial mRNA-derived duplication of the gene identified in NGS carrier screening
A novel partial mRNA-derived duplication of the gene identified in NGS carrier screening
Duplications in the dystrophin gene (DMD) represent a common genetic variation associated with the onset of Duchenne and B...
Complete mitochondrial DNA genome of the Indian Chhattisgarh duck and its phylogenetic analysis
Complete mitochondrial DNA genome of the Indian Chhattisgarh duck and its phylogenetic analysis
The Chhattisgarh duck (Anas platyrhynchos L., 1758) is a native Indian germplasm that provides crucial support for the loc...
Transcriptome analysis unveils the intricate dynamics of senescence responses in Himalayan treeline species,
Transcriptome analysis unveils the intricate dynamics of senescence responses in Himalayan treeline species,
High-altitude ecosystems in the Himalayas exhibit extreme seasonal variations in their vegetation, with summer and winter ...
Neuronal expressions of Taxi and Adar are crucial in maintaining the lifespan of
Neuronal expressions of Taxi and Adar are crucial in maintaining the lifespan of
Ageing involves deterioration in physiological processes, such as maintenance of neuronal health, muscle, fat bodies, and ...
Characterization and phylogenetic analysis of the mitochondrial genome of (Günther, 1867)
Characterization and phylogenetic analysis of the mitochondrial genome of (Günther, 1867)
The ornamental fish Amatitlania nigrofasciata, known as the convict or zebra cichlid, is a small Central American tropical...
Copy number variation: an important genetic mechanism in-related immunoosseous dysplasia (Schimke type) in Indian patients
Copy number variation: an important genetic mechanism in-related immunoosseous dysplasia (Schimke type) in Indian patients
Schimke immunoosseous dysplasia (SIOD) is an uncommon inherited genetic disorder resulting from pathogenic variants in the...
Full-length transcriptome sequencing and identification of skin colour-associated genes in red tilapia
Full-length transcriptome sequencing and identification of skin colour-associated genes in red tilapia
Red tilapia has gained increasing popularity worldwide in the commercial aquaculture production due to its rapid growth an...
Mitotic karyotyping and FISH mapping of the gender-specific locus indicate an advanced XY system in
Mitotic karyotyping and FISH mapping of the gender-specific locus indicate an advanced XY system in
Hippophae rhamnoides ssp. turkestanica, a subdioecious plant inhabiting the cold desert of the Indian Himalaya, has gained...
Structural and functional insights from detailed computational analysis of repetome
Structural and functional insights from detailed computational analysis of repetome
Eukaryotic proteomes harbour tandem repeats (TRs) of amino acids that may play critical roles in the biology of organisms....
Development of specific molecular markers for medicinal peony () with double flower
Development of specific molecular markers for medicinal peony () with double flower
In China, medicinal Paeonia lactiflora with double flowers (DFs) does not produce seeds, yet it possesses significantly hi...
Mitochondrial control region sequences show high genetic connectivity in the brownstripe snapper, (Quoy and Gaimard, 1824) from the east coast of Peninsular Malaysia
Mitochondrial control region sequences show high genetic connectivity in the brownstripe snapper, (Quoy and Gaimard, 1824) from the east coast of Peninsular Malaysia
The Brownstripe Snapper, Lutjanus vitta (Quoy and Gaimard, 1824) is a commercially important snapper extensively caught in...
JAG1 overexpression partially rescues muscle function in a zebrafish model of duchenne muscular dystrophy
JAG1 overexpression partially rescues muscle function in a zebrafish model of duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration and loss o...
YY1 as a mediator to enhance the resistance of KRAS mutant colorectal cancer cells to cetuximab
YY1 as a mediator to enhance the resistance of KRAS mutant colorectal cancer cells to cetuximab
Cetuximab has been indicated as the mainstay of metastatic colorectal cancer (CRC) therapy, of which application was imped...
The driver in does not express in the eight pairs of dorsomedial and some other neurons in larval ventral ganglia: a correction
The driver in does not express in the eight pairs of dorsomedial and some other neurons in larval ventral ganglia: a correction
The sev-Gal4 driver is widely used in Drosophila to express the target gene in specific subsets of cells in ommatidial uni...
Maternal effect on the inheritance of pericarp colour and grain dimension in rice ( L.)
Maternal effect on the inheritance of pericarp colour and grain dimension in rice ( L.)
This study aimed to understand the maternal influence on the inheritance of pericarp colour and grain dimensions in rice, ...
Generation of albino C57BL/6J mice by CRISPR embryo editing of the mouse tyrosinase locus
Generation of albino C57BL/6J mice by CRISPR embryo editing of the mouse tyrosinase locus
After the arrival of the CRISPR/Cas9 genome editing technology, genetic engineering of model organisms has become much fas...
Gonadal mosaicism and paradoxical phenotype in encephalopathy: a case report of two siblings
Gonadal mosaicism and paradoxical phenotype in encephalopathy: a case report of two siblings
The neurite extension and migration factor (NEXMIF) encephalopathy is an X-linked disorder that is chara...
Characterization and expression patterns of the -like genes in maize
Characterization and expression patterns of the -like genes in maize
The nonexpressor of pathogenesis-related 1 (NPR1) is the salicylic acid (SA) receptor, which plays an important regulatory...
Deletion of noncoding exons 1–2 causes Smith–Magenis syndrome
Deletion of noncoding exons 1–2 causes Smith–Magenis syndrome
Smith–Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay and a typical behavi...
Mapping and gene cloning of a wheat mutant with dwarf and compacted spikes
Mapping and gene cloning of a wheat mutant with dwarf and compacted spikes
Plant height and spikelet density are two important traits for wheat (Triticum aestivum L.) yield. The development of whea...
Analysis of whole-exome data of nonobese NAFLD patients from India reveals association with new markers on functionally relevant genes and pathways
Analysis of whole-exome data of nonobese NAFLD patients from India reveals association with new markers on functionally relevant genes and pathways
Nonalcoholic fatty liver disease (NAFLD) occurs in a significant number of nonobese individuals, especially in Asian popul...
promoter mutation: a familial study on congenital amegakaryocytic thrombocytopenia
promoter mutation: a familial study on congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome, which is characterize...
Analysis of tandem repeats in seven telomere-to-telomere primate genomes
Analysis of tandem repeats in seven telomere-to-telomere primate genomes
Tandem repeats (TRs) are highly polymorphic low complexity regions present in all the genomes. The length variation in TRs...
is involved in yield-related traits and cell proliferation of maize
is involved in yield-related traits and cell proliferation of maize
Heterotrimeric G-proteins are multifunctional modulators that participate in a wide range of growth and developmental proc...
NGLY1-CDDG: report of two cases from India and brief review of literature
NGLY1-CDDG: report of two cases from India and brief review of literature
N-glycanase1 (NGLY1) deficiency, an autosomal recessive disorder identified a decade ago, is categorized as a congenital d...
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