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830 Fabry rat skin findings demonstrate potential roles of inflammation and lipoatrophy in Fabry disease
Fabry disease is an X-linked lysosomal disease caused by α-galactosidase A deficiency. Patients experience distal extremity pain and often develop renal failure, cardiomyopathy, and stroke. Dermatological manifestations include sweating abnormalities and angiokeratomas. To gain a better understanding of disease mechanisms, we generated a Fabry rat model using CRISPR/Cas9 technology and confirmed the absence of α-galactosidase A activity in tissues. Wild type (WT) and Fabry rats were indistinguishable at young ages (weaning-6 months), but aging (9 months+) Fabry rats developed an unkempt appearance, alopecia, and xeroderma.
Source: Journal of Investigative Dermatology - April 19, 2018 Category: Dermatology Authors: J.J. Miller, O. Sokumbi, P.E. North, N.M. Dahms Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research

755 Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels which lead to disfigurement, overgrowth, stroke, pain and/or life-threatening bleeding, depending on the vessel size and the body site. Therapeutic options are severely limited and multi-disciplinary management remains challenging. To investigate the pathogenesis of 160 sporadic intracranial and extracranial VMs in which known genetic causes had been excluded, sequencing of affected tissue DNA was undertaken using next generation sequencing optimised for detection of low mutant allele frequency.
Source: Journal of Investigative Dermatology - April 19, 2018 Category: Dermatology Authors: S. Polubothu, L. Al-Olabi, K. Dowsett, K. Andrews, P. Stadnik, R. Knox, W. Baird, M. Glover, C. Moss, A. Thomas, L. Biesecker, R. Semple, E. Patton, V. Kinsler Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research

830 Fabry rat skin findings demonstrate potential roles of inflammation and lipoatrophy in Fabry disease
Fabry disease is an X-linked lysosomal disease caused by α-galactosidase A deficiency. Patients experience distal extremity pain and often develop renal failure, cardiomyopathy, and stroke. Dermatological manifestations include sweating abnormalities and angiokeratomas. To gain a better understanding of disease mechanisms, we generated a Fabry rat model using CRISPR/Cas9 technology and confirmed the absence of α-galactosidase A activity in tissues. Wild type (WT) and Fabry rats were indistinguishable at young ages (weaning-6 months), but aging (9 months+) Fabry rats developed an unkempt appearance, alopecia, and xeroderma.
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: J.J. Miller, O. Sokumbi, P.E. North, N.M. Dahms Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research

755 Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels which lead to disfigurement, overgrowth, stroke, pain and/or life-threatening bleeding, depending on the vessel size and the body site. Therapeutic options are severely limited and multi-disciplinary management remains challenging. To investigate the pathogenesis of 160 sporadic intracranial and extracranial VMs in which known genetic causes had been excluded, sequencing of affected tissue DNA was undertaken using next generation sequencing optimised for detection of low mutant allele frequency.
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: S. Polubothu, L. Al-Olabi, K. Dowsett, K. Andrews, P. Stadnik, R. Knox, W. Baird, M. Glover, C. Moss, A. Thomas, L. Biesecker, R. Semple, E. Patton, V. Kinsler Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research