A5040438544- Hepatitis C virus research
- Liver Disease Diagnosis and Treatment
- Connective tissue disorders research
- Hepatitis B Virus Studies
- Genomics and Rare Diseases
- Bone Metabolism and Diseases
- Wnt/β-catenin signaling in development and cancer
- Nuclear Structure and Function
- RNA regulation and disease
- Dermatological and Skeletal Disorders
- Skin and Cellular Biology Research
- Cellular transport and secretion
- Heart Rate Variability and Autonomic Control
- Genetic and Kidney Cyst Diseases
- Liver Disease and Transplantation
- Systemic Lupus Erythematosus Research
- Genetic factors in colorectal cancer
- NF-κB Signaling Pathways
- Climate Change and Health Impacts
- Renal and related cancers
- Primary Care and Health Outcomes
- Fibroblast Growth Factor Research
- Liver Diseases and Immunity
- Metabolism and Genetic Disorders
- Alcohol Consumption and Health Effects
University of Otago
2014-2024
VA Puget Sound Health Care System
2024
University of Washington
2024
University of California, Los Angeles
2024
RTI International
2018-2021
NHS Grampian
2021
VA Long Beach Healthcare System
2008-2018
University of Bonn
2011
University of California, Irvine
2008-2010
Archéologie des Amériques
2009
To define the clinical, radiologic, and genetic features of periventricular heterotopia (PH) with Ehlers-Danlos syndrome (EDS).Exonic sequencing single stranded conformational polymorphism (SSCP) analysis was performed on affected individuals. Linkage using microsatellite markers X-chromosome a pedigree. Western blotting evaluated for loss filamin A (FLNA) protein Southern assessed any potential chromosome rearrangement in this region.The authors report two familial cases nine additional...
Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. Here, we report that autosomal recessive mutations MYMK (OMIM 615345) cause Carey-Fineman-Ziter syndrome humans (CFZS; OMIM 254940) reducing but not eliminating function. We characterize MYMK-CFZS as congenital myopathy with marked...
Abstract Since the beginning of 2021, CEN/TS 19100 Design Glass Structures has been available in its first three parts. The fourth part is expected soon. This Technical Specification European standards organisation CEN as a pre-standard corresponding future Eurocode. These documents constitute ever comprehensive design code for entire structural glass engineering field on market time. In addition to clear outline, drafted be compatible with EN 1990 “Basis Design” and address glass-specific...
Abstract We report on the third case of cutis laxa and progeroid features caused by a homozygous mutation in ALDH18A1 that encodes Δ 1 ‐pyrroline‐5‐carboxylate‐synthase (P5CS). This severely affected child, born to consanguineous parents Pakistani origin, presented with lax, wrinkled thin skin dilated tortuous subcutaneous blood vessels, corneal clouding, hypotonia. The child had severe global developmental delay feeding difficulties died infancy for an unknown reason. proband was , c.1923 +...
The mammalian neocortex has undergone remarkable changes through evolution. A consequence of such rapid evolutionary events could be a trade-off that rendered the brain susceptible to certain neurodevelopmental and neuropsychiatric conditions. We analyzed exomes 65 patients with structural malformation periventricular nodular heterotopia (PH). De novo coding variants were observed in excess genes defining transcriptomic signature basal radial glia, cell type linked In addition, we located...
Abstract Spondyloepiphyseal dysplasia (SED), Omani type (OMIM 608637) is a recessively inherited skeletal previously described in two distantly related families from the Republic of Oman. The phenotype consists short stature, severe kyphoscoliosis, arthritic joints (elbows, wrists, knees), secondary large joint dislocations, rhizomelia, fusion carpal bones and mild brachydactyly. Affected individuals were homozygous for missense mutation, R304Q CHST3 that encodes enzyme chondroitin 6‐ O...
Dominant missense mutations in FLNB, encoding the actin-cross linking protein filamin B (FLNB), cause a broad range of skeletal dysplasias with varying severity by an unknown mechanism. Here these FLNB are shown to cluster exons actin-binding domain (ABD) and repeats surrounding flexible hinge 1 region rod domain. Despite being positioned domains that bind actin, it is if perturb cytoskeletal structure. Expression several full-length constructs containing ABD resulted appearance...
Frontometaphyseal dysplasia (FMD) is caused by gain‐of‐function mutations in the X‐linked gene FLNA approximately 50% of patients. Recently we characterized an autosomal dominant form FMD (AD‐FMD) MAP3K7 , which accounts for condition majority patients who lack a mutation. We previously also described patient with de novo variant TAB2 hypothesized was causative another AD‐FMD. In this study, cohort 20 individuals AD‐FMD clinically evaluated. This consists 15 recently described, recurrent...
Abstract Osteopathia striata with cranial sclerosis (OSCS) is an X‐linked disease caused by truncating mutations in WTX . Females exhibit sclerotic striations on the long bones, sclerosis, and craniofacial dysmorphism. Males OSCS have significant skeletal do not but display a more severe phenotype commonly associated gross structural malformations, patterning defects, pre‐ postnatal lethality. The recent description of underlying has led to identification milder, survivable males....
Loss-of-function mutations in the X-linked gene FLNA can lead to abnormal neuronal migration, vascular and cardiac defects, congenital intestinal pseudo-obstruction (CIPO), latter characterized by anomalous smooth muscle layering. Survival male hemizygotes for such is dependent on retention of residual function but it unclear why a subgroup males with 5′ end present CIPO alone. Here, we demonstrate evidence presence two isoforms differing 28 residues at N-terminus initiated ATG+1 ATG+82. A...
Summary. In previous hepatitis C virus (HCV) treatment studies, Black patients not only had a lower sustained viral response (SVR) rate to interferon and ribavirin (RBV) than non‐Black but also higher frequency of HCV genotype 1 (GT‐1) infection. The aim this community‐based study was determine whether have SVR independent genotype. We prospectively enrolled 785 (24.8% Black, 71.5% White, 3.7% others) who received alpha‐2b 3 MU three times weekly + RBV 1000–1200 mg/day for 24 weeks (GT‐2/3)...
Osteopathia striata congenita with cranial sclerosis (OSCS) is a skeletal dysplasia caused by germline deletions of or truncating point mutations in the X-linked gene WTX (FAM123B, AMER1). Females present longitudinal striations sclerotic bone along long axis bones and sclerosis, high prevalence cleft palate hearing loss. Intellectual disability neurodevelopmental delay not observed females leading to OSCS. One female has been described deletion spanning multiple neighbouring genes...