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research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome

11 citations , January 2021 in “British Journal of Dermatology”

Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

research Nucleocytoplasmic Communication in Progeria

April 2014 in “Libra”

Defective nuclear transport may cause gene expression changes in Progeria.

research Hairless Up‐Regulates Tgf‐β2 Expression via Down‐Regulation of miR‐31 in the Skin of “Hairpoor” (Hr^Hp) Mice

11 citations , January 2015 in “Journal of cellular physiology”

HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.

research Feronia: A malectin-like domain-containing receptor kinase in Arabidopsis thaliana insights into polarized cell growth, pollen tube - Pistil interactions, and sugar signaling

January 2013 in “Scholarworks (University of Massachusetts Amherst)”

FERONIA regulates plant growth, pollen interactions, and sugar signaling.

research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

23 citations , January 2017 in “BMC Medical Genetics”

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

research Identification of llama KRTAP7-1 and KRTAP8-1 fiber genes and polymorphism screening

2 citations , May 2019 in “Small ruminant research”

Mutations in specific llama genes may affect fiber quality for textiles.

Enhanced Ectodysplasin-A Receptor Signaling Alters Multiple Fiber Characteristics to Produce the East Asian Hair Form

research Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form

98 citations , June 2008 in “Human mutation”

A genetic change in the EDAR gene causes the unique hair traits found in East Asians.

research Alterations in the expression of specific epidermal keratin markers in the hairless mouse by the topical application of the tumor promoters 2,3,7,8-tetrachlorodibenzo-p-dioxin and the phorbol ester 12-O-tetradecanoylphorbol-13-acetate

12 citations , January 1987 in “Carcinogenesis”

TCDD changes skin cell growth and keratin production in mice.

research First-in-human phase 1 study of ETC-159 an oral PORCN inhbitor in patients with advanced solid tumours.

33 citations , May 2017 in “Journal of Clinical Oncology”

ETC-159 was safe up to 30 mg, but no tumor shrinkage was seen.

Prostaglandin D2 Uses Components of ROS Signaling to Enhance Testosterone Production in Keratinocytes

research Prostaglandin D2 Uses Components of ROS Signaling to Enhance Testosterone Production in Keratinocytes

9 citations , September 2017 in “Journal of Investigative Dermatology Symposium Proceedings”

Prostaglandin D2 increases testosterone production in skin cells through a process involving reactive oxygen species, and antioxidants may help treat hair loss.

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