A5002322936- Genetic and Kidney Cyst Diseases
- Fetal and Pediatric Neurological Disorders
- Hedgehog Signaling Pathway Studies
- Metabolism and Genetic Disorders
- Congenital Anomalies and Fetal Surgery
- Genomics and Rare Diseases
- Renal and related cancers
- Prenatal Screening and Diagnostics
- Congenital gastrointestinal and neural anomalies
- Mitochondrial Function and Pathology
- Sexual Differentiation and Disorders
- Intestinal Malrotation and Obstruction Disorders
- Genetic Syndromes and Imprinting
- CRISPR and Genetic Engineering
- Down syndrome and intellectual disability research
- Tuberous Sclerosis Complex Research
- Medical Imaging and Pathology Studies
- RNA and protein synthesis mechanisms
- Chronic Disease Management Strategies
- Assisted Reproductive Technology and Twin Pregnancy
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Craniofacial Disorders and Treatments
- Biochemical and Molecular Research
- PI3K/AKT/mTOR signaling in cancer
Eunice Kennedy Shriver National Institute of Child Health and Human Development
2015-2025
National Institutes of Health
2014-2024
Eunice Kennedy Shriver Center
2017
Seattle Children's Hospital
1999-2009
Rome Foundation
2009
University of Washington
1999-2009
Medical Genetics Center
2004-2009
Institut thématique Génétique, génomique et bioinformatique
2009
Seattle University
2007-2009
National Center on Birth Defects and Developmental Disabilities
2009
Germline mutations in the tumour suppressor gene PTEN have been implicated two hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba (BRR). maps to 10q23 encodes a dual specificity phosphatase, substrate of which is phosphatidylinositol 3,4,5-triphosphate, phospholipid 3-kinase pathway. CS characterized by multiple hamartomas an increased risk benign malignant disease breast, thyroid central nervous system, whilst presence cancer has not...
Human mitochondrial transcription factor 1 (mtTF1) has been sequenced and is a nucleus-encoded DNA binding protein of 204 amino acids (24,400 daltons). Expression human mtTF1 in bacteria yields with correct physical properties the ability to activate promoters. Analysis protein's sequence reveals no similarities any other proteins except for existence two domains that are characteristic high mobility group (HMG) proteins. most closely related HMG-box region hUBF, known be important by RNA...
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and distinctive mid-hindbrain malformation. JS demonstrates substantial phenotypic variability genetic heterogeneity. This study provides comprehensive view of the current basis, range gene-phenotype associations in JS.
Mitochondrial transcription factor 1 (mtTF1) is the only accessory protein known to be required for accurate and efficient promoter recognition by mammalian mitochondrial RNA polymerase. It activates binding immediately upstream of transcriptional start sites shows an inherent flexibility in primary DNA sequence requirement. By application a purification strategy designed human mouse mtTF1, resembling mtTF1 was recently isolated from yeast mitochondria; its size (19 kDa), DNA-binding...
Abstract The Molar Tooth Sign (MTS) is defined by an abnormally deep interpeduncular fossa; elongated, thick, and mal‐oriented superior cerebellar peduncles; absent or hypoplastic vermis that together give the appearance of a “molar tooth” on axial brain MRI through junction midbrain hindbrain (isthmus region). It was first described in Joubert syndrome (JS) where it present vast majority patients with this diagnosis. We previously showed MTS component several other syndromes, including...
Human mitochondrial transcription factor A is a 25-kDa protein that binds immediately upstream of the two major promoters, thereby leading to correct and efficient initiation transcription. Although nature yeast promoters significantly different from human potential functional homolog transcriptional activator has been previously identified in mitochondria. The importance DNA function shown by inactivation its nuclear gene (ABF2) Saccharomyces cerevisiae cells resulting loss DNA. We report...
<h3>Objective</h3> To identify genetic causes of COACH syndrome <h3>Background</h3> is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis. The hypoplasia falls in spectrum mid-hindbrain malformation called the molar tooth sign (MTS), making Joubert related (JSRD). <h3>Methods</h3> In cohort 251 families with JSRD, 26 subjects 23 met criteria for syndrome, defined as...
Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive disorder characterized by cerebellar vermis hypoplasia and distinctive malformation of the cerebellum brainstem identified as "molar tooth sign" on brain MRI. Other universal features include hypotonia with later ataxia intellectual disability/developmental delay, additional consisting oculomotor apraxia abnormal respiratory pattern. Notably, other, more variable renal cystic disease, nephronophthisis, retinal...
Untreated congenital hypothyroidism (CH) leads to intellectual disabilities. Prompt diagnosis by newborn screening (NBS) leading early and adequate treatment results in grossly normal neurocognitive outcomes adulthood. However, NBS for is not yet established all countries globally. Seventy percent of neonates worldwide do undergo NBS.The initial CH levothyroxine, 10 15 mcg/kg daily. The goals are maintain consistent euthyroidism with thyroid-stimulating hormone free thyroxine the upper half...
Recent studies show that patients presenting with cytochrome oxidase (COX) deficiency in infancy may have reduced mitochondrial DNA (mtDNA) muscle. The human transcription factor A (h-mtTFA) be an important regulator of both and replication mtDNA. h-mtTFA levels were investigated cell lines which either free mtDNA (ϱ0) or temporarily depleted by treatment dideoxycytidine (ddC), tissue from three depletion deficiency. was compared other proteins such as pyruvate dehydrogenase porin Western...
<b>Background:</b> Joubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar tooth sign (MTS) on cranial MRI. Four genetic loci have been mapped, with two genes identified (<i>AHI1</i> <i>NPHP1</i>). <b>Methods:</b> We screened cohort of 117 JS subjects for <i>AHI1</i> mutations combination haplotype analysis sequencing gene, homozygous...