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Diagnostic Value of Chromosomal Microarray Analysis in Patients With Congenital Anomalies and Dysmorphic Features; Details of Two New Patients With 2q33 Deletions

research Diagnostic Value of Chromosomal Microarray Analysis in Patients With Congenital Anomalies and Dysmorphic Features; Details of Two New Patients With 2q33 Deletions

December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi”

Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.

research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia

1 citations, November 2017 in “Expert opinion on orphan drugs”

Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.

Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–Like Autoimmune Disease

research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–Like Autoimmune Disease

26 citations, June 2018 in “The journal of immunology/The Journal of immunology”

AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.

research Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family

4 citations, December 2021 in “Journal of clinical laboratory analysis”

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

research Genetic Hair Disorders: A Review

26 citations, July 2019 in “Dermatology and Therapy”

The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.

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community OFFICIAL Multi-Center Verteporfin Trial Recruitment

in Research/Science 248 upvotes 3 weeks ago

Recruitment for a verteporfin trial and a separate hair cloning trial using verteporfin and other methods is underway, with locations in Jordan, NYC, Beverly Hills, and Memphis. Dr. Bloxham is conducting the hair cloning trial, and interested participants are encouraged to contact him directly.

community Verteporfin and Microneedling

in Treatments 1 year ago

Clinical studies by Dr. Barghouthi and Dr. Bloxham indicate that Verteporfin, when used with FUE and FUT hair transplantation methods, shows promise in hair follicle regeneration and minimal scarring due to its ability to inhibit Yes-associated protein (YAP). Microneedling at depths of 3-3.5mm, combined with Verteporfin, could potentially reactivate dormant follicles, although the optimal dosage and application method are still under investigation. Concerns remain about the DHT sensitivity of regenerated follicles, highlighting the need for further research to optimize trauma levels and Verteporfin concentrations to achieve effective and scar-free hair regeneration.