A5005330848- Skin and Cellular Biology Research
- SMEs Development and Digital Marketing
- Oral microbiology and periodontitis research
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Bone and Dental Protein Studies
- dental development and anomalies
- Ion Transport and Channel Regulation
- Genetic and Kidney Cyst Diseases
- Congenital limb and hand anomalies
- Community-based Tourism Development and Sustainability
- Employee Performance and Leadership
- Genomic variations and chromosomal abnormalities
- RNA Research and Splicing
- Management and Optimization Techniques
- Forest Ecology and Conservation
- RNA modifications and cancer
- Amino Acid Enzymes and Metabolism
- Hedgehog Signaling Pathway Studies
- Agricultural and Environmental Management
- Genetic Syndromes and Imprinting
- Agriculture and Agroindustry Studies
- Plant Growth and Agriculture Techniques
- Wnt/β-catenin signaling in development and cancer
- Dermatological and Skeletal Disorders
Kohat University of Science and Technology
2019-2025
Institut Agama Islam Negeri Bukittinggi
2024
Institut Teknologi dan Bisnis Kalbe
2022
Aminoacyl-tRNA synthetases (ARSs) are essential enzymes for faithful assignment of amino acids to their cognate tRNA. Variants in ARS genes frequently associated with clinically heterogeneous phenotypes humans and follow both autosomal dominant or recessive inheritance patterns many instances. tryptophanyl-tRNA synthetase 1 (WARS1) cause dominantly inherited distal hereditary motor neuropathy Charcot-Marie-Tooth disease. Presently, only one family biallelic WARS1 variants has been described....
Abstract Amelogenesis Imperfecta (AI) is a set of hereditary diseases affecting enamel development, leading to various types defects, potentially impacting oral health unassociated with other generalized defects. AI manifests in syndromic and non-syndromic forms can be inherited through autosomal recessive, dominant, or X-linked inheritance patterns. Genetic studies have identified sequence variants number genes (≥ 70) linked both AI, highlighting the genetic diversity underlying condition....
Bardet-Biedl syndrome (BBS) is a rare clinically and genetically heterogeneous autosomal recessive multi-systemic disorder with 22 known genes. The primary clinical diagnostic features include six different hallmarks, such as rod-cone dystrophy, learning difficulties, renal abnormalities, male hypogonadism, post-axial polydactyly, obesity. Here, we report nine consanguineous families non-consanguineous family several affected individuals presenting typical of BBS. In the present study, 10...
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder. It drastically affects the learning capabilities of patients eventually reduces their IQ level below 70.The current genetic study ascertained two consanguineous Pakistani families suffering from autosomal recessive intellectual developmental disorder-5 (MRT5). We have used exome sequencing followed by Sanger to identify disease-causing variants.Genetic analysis using whole in these identified novel mutations...
Abstract Background Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms its thickness, structure, and composition. It appears both syndromic as well non-syndromic forms. In affected individuals, usually thin, soft, rough, brittle, pitted, chipped, abraded, having reduced functional ability aesthetics. leads to severe complications patient, like early loss, discomfort,...
Abstract Background Intellectual disability (ID) can be associated with different syndromes such as Rubinstein‐Taybi syndrome (RSTS) and also related to conditions metabolic encephalomyopathic crises, recurrent,with rhabdomyolysis, cardiac arrhythmias neurodegeneration. Rare congenital RSTS1 (OMIM 180849) is characterized by mental growth retardation, significant duplicated distal phalanges of thumbs halluces, facial dysmorphisms, an elevated risk malignancies. Microdeletions point mutations...
Intellectual disability (ID) is a condition that varies widely in both its clinical presentation and genetic underpinnings. It significantly impacts patients' learning capacities lowers their IQ below 70. The solute carrier (SLC) family the most abundant class of transmembrane transporters responsible for translocation various substances across cell membranes, including nutrients, ions, metabolites, medicines. SLC13A3 gene encodes plasma membrane-localized Na+/dicarboxylate cotransporter 3...
The Banto Royo tourist attraction is one of the destinations located in Nagari Koto Tangah, Tilatang Kamang District, Agam Regency. At beginning its appearance, seemed to be main destination that people had visit. However, after Covid-19 pandemic hit world some time ago, it also a significant impact on attraction. Therefore, Community Service carried out area order attract visitors' interest traveling this method for implementing activity carry an event can visitors, namely by holding...
Congenital ichthyosis is a diverse group of keratinization disorders associated with generalized scaling skin varying severity. The non-syndromic forms congenital are further grouped into common (ichthyosis vulgaris and X-linked ichthyosis), autosomal recessive ichthyosis, keratopathic ichthyosis.To identify sequence variants involved in different hereditary ichthyoses.We studied eight families types including four ichthyosis. Whole exome sequencing PCR based genotyping was carried out to...
Ujicoba telah dilakukan di Parung Panjang, Jawa barat untuk mengetahui efektivitas herbisida monoamonium glifosat dalam mengendalikan gulma bawah tegakan Acacia mangium Willd. Percobaan dilaksanakan melalui aplikasi dengan dosis 3, 4,5, 6 dan 9 liter per ha serta membandingkannya up 4,5 ha, perlakuan manual kontrol (tanpa perlakuan). Hasil percobaan menunjukkan bahwa dapat digunakan sebagai sarana pemeliharaan tanaman kehutanan dari ganggua Selanjutnya minimum liter/ha efektif lmperata...
Primitive epidermis develops the nail apparatus. Nails have a strong and inflexible plate at end of each digit. Very few genes responsible for causing nonsyndromic form dysplasia been reported. In current study, peripheral blood samples were collectedfrom three unaffected individuals four affectedindividuals Family A, while from two affected taken B. Genotyping in both families was performed using highly polymorphic short tandem repeat microsatellite markers. Sanger sequence FZD6 gene...
Peningkatan kreatifitas pelaku usaha guna menghasilkan produk dengan mutu dan kualitas dalam suatu harus selalu ditingkatkan. Perubahan sangat cepat terjadi di ekonomi global akibat disrupsi teknologi informasi yang mampu mengubah corak persaingan baik lokal maupun internasional. Pada kecil menengah ini membawa perubahan besar pula sehingga seorang wirausaha dituntut agar dapat meningkatkan inovatif memenuhi permintaan pelanggan. Dewasa bauran pemasaran memasarkan sudah menjadi hal wajib...
PKM ini dilakukan di KWT UP3HP Indah Sari Jorong Ladang Darek, Nagari Kamang Hilia, Kec. Magek, Kab. Agam. Saat menghadapi berbagai hambatan terkait pembagian tugas dan pola produksi produk, banyak pesanan yang datang namun tidak bisa terpenuhi semuanya karena belum tepatnya pengelolaan manajemen operasional diterapkan. Manajemen sumber daya manusia merupakan suatu proses menangani masalah pada ruang lingkup karyawan, pegawai, buruh, manajer tenaga kerja lainnya untuk dapat menunjang...