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research CRISPR/Cas9-Based Targeted Genome Editing for Correction of Recessive Dystrophic Epidermolysis Bullosa Using iPS Cells

1 citations, September 2019 in “Journal of Investigative Dermatology”

The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.

Type A Insulin Resistance Syndrome Due to a Novel Heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR Gene Mutation in an Adolescent Girl and Her Mother

research Type A Insulin Resistance Syndrome Due to a Novel Heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR Gene Mutation in an Adolescent Girl and Her Mother

January 2024 in “Archives of Endocrinology and Metabolism”

A new gene mutation causes insulin resistance in a girl and her mother.

research Suppression of Wnt/β-Catenin Signaling by EGF Receptor Is Required for Hair Follicle Development

25 citations, September 2018 in “Molecular Biology of the Cell”

Blocking Wnt/β-catenin signaling with EGF receptor is necessary for proper hair growth.

research Alopecia Areata in a Rhesus Monkey (Macaca Mulatta)

16 citations, April 2007 in “Journal of Medical Primatology”

The monkey's hair loss was due to an autoimmune disease, not genetics.

A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family

research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family

9 citations, March 2018 in “European journal of dermatology/EJD. European journal of dermatology”

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

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