Anju Shukla
A5023616161- Genomics and Rare Diseases
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Connective tissue disorders research
- Neurogenetic and Muscular Disorders Research
- Genomic variations and chromosomal abnormalities
- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- RNA regulation and disease
- Congenital heart defects research
- Cellular transport and secretion
- Lysosomal Storage Disorders Research
- RNA Research and Splicing
- Urological Disorders and Treatments
- Muscle Physiology and Disorders
- Genetic and Kidney Cyst Diseases
- Fetal and Pediatric Neurological Disorders
- DNA Repair Mechanisms
- Cardiomyopathy and Myosin Studies
- Renal and related cancers
- Cleft Lip and Palate Research
- Neurological diseases and metabolism
- Bone and Dental Protein Studies
- Genetic Neurodegenerative Diseases
- Bone health and treatments
Kasturba Medical College, Manipal
2015-2024
Manipal Academy of Higher Education
2015-2024
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
2023
Heidelberg University
2022
University of Otago
2022
University Hospital Heidelberg
2022
Austin Health
2022
The University of Melbourne
2022
Northwestern University
2022
GTx (United States)
2020
Abstract PIDD1 encodes p53-Induced Death Domain protein 1, which acts as a sensor surveilling centrosome numbers and p53 activity in mammalian cells. Early results also suggest role DNA damage response where may act cell-fate switch, through interaction with RIP1 NEMO/IKKg, activating NF-κB signaling for survival, or an apoptosis-inducing by caspase-2. Biallelic truncating mutations CRADD—the bridging caspase-2—have been reported intellectual disability (ID), form of lissencephaly. Here, we...
Intraflagellar transport (IFT) is vital for the functioning of primary cilia. Defects in several components IFT complexes cause a spectrum ciliopathies with variable involvement skeleton, brain, eyes, ectoderm and kidneys. We examined child from consanguineous family who had short stature, narrow thorax, hands feet, postaxial polydactyly hands, pigmentary retinopathy, small teeth skeletal dysplasia. The clinical phenotype shows significant overlap cranioectodermal dysplasia type I...
Spondyloepimetaphyseal dysplasias (SEMD) are a group of genetically heterogeneous skeletal disorders characterized by abnormal vertebral bodies and epimetaphyseal abnormalities. We investigated two families with new SEMD type one proband each. They showed mild facial dysmorphism, flat (platyspondyly), large epiphyses, metaphyseal dysplasia, hallux valgus as common clinical features. By trio-exome sequencing, the homozygous missense variant c.797G>A/p.(Cys266Tyr) in PISD was found both...
Abstract Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms childhood-onset and hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) SPG52 (AP4S1). Here, we report a detailed cross-sectional analysis clinical, imaging molecular data 156 patients from 101 families. Enrolled were diverse ethnic backgrounds covered wide age range (1.0–49.3 years). While mean at symptom...
Physical stress, including high temperatures, may damage the central metabolic nicotinamide nucleotide cofactors [NAD(P)H], generating toxic derivatives [NAD(P)HX]. The highly conserved enzyme NAD(P)HX dehydratase (NAXD) is essential for intracellular repair of NAD(P)HX. Here we present a series infants and children who suffered episodes febrile illness-induced neurodegeneration or cardiac failure early death. Whole-exome whole-genome sequencing identified recessive NAXD variants in each...
Given the genomic uniqueness, a local data set is most desired for Indians, who are underrepresented in existing public databases. We hypothesize patients with rare monogenic disorders and their family members can provide reliable source of common variants population. Exome sequencing (ES) from families Mendelian was aggregated five centers India. The dataset refined by excluding related individuals removing disease-causing (refined cohort). efficiency these sets assessed new 50 exomes...
Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads the glucocerebrosidase enzyme deficiency and an increased accumulation of undegraded glycolipid glucocerebroside inside cells' lysosomes. To date, nearly 460 mutations have been described in GBA1 gene. With aim determine spectrum molecular pathology India, present study investigated one hundred unrelated patients (age range: 1 day 31 years) having splenomegaly,...
Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge anteverted nares, long philtrum, thin lips, micrognathia, hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, upper limb anomalies. This study looked at from diverse populations both clinical...
BackgroundBone disease comprising of low bone mineral density (BMD), pain, and fractures is a characteristic feature thalassemia. Vitamin D receptors (VDRs – FokI, TaqI, Bsml) polymorphisms are closely related to BMD at the lumbar spine hips which can be used as useful genetic marker in predicting these patients.AimTo find out status VDRs gene its effect on osteoporosis thalassemia patients North Indian origin.Material methodsBMD was measured 40 beta-thalassemia major by dual-energy X-ray...
Abstract The application of genomic technologies has led to unraveling the complex genetic landscape disorders epilepsy, gaining insights into their underlying disease mechanisms, aiding precision medicine, and providing informed counseling. We herein present phenotypic genotypic from 142 Indian families with epilepsy or without comorbidities. Based on electroclinical findings, syndrome diagnosis could be made in 44% (63/142) adopting latest proposal for classification by ILAE task force...
Biallelic variants in RSPRY1 have been found to result spondyloepimetaphyseal dysplasia. Two siblings presenting with short stature, facial dysmorphism, progressive vertebral defects, small epiphysis, cupping and fraying of metaphyses, brachydactyly, metatarsals harbored a homozygous missense variant c.1652G>A;p.(Cys551Tyr) the gene. The phenotype our patients resembles dysplasia, Faden-Alkuraya type. Thus, study provides further evidence support association We observed joint dislocation as...
Abstract Objectives We aimed to analyze the utility of fetal autopsy in terms its contribution establishing a definitive diagnosis and impact on genetic counseling. Subjects methods Detailed was carried out fetuses referred for examination. Clinical counseling were measured by adapting previously published parameters. Results performed 230 fetuses. There 106 cases with single system 92 multisystem involvement. confirmed prenatal findings 23% observed additional 37% cases. In cases, differed...