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research Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics

14 citations , August 2021 in “Molecular Genetics and Metabolism Reports”

Pegvaliase effectively reduces blood phenylalanine levels in most PKU patients, but requires personalized plans and good communication to manage side effects.

The Spectrum of PLEC Sequence Variants and Related Plectinopathies Including Novel Association with Epidermolysis Bullosa Pruriginosa

research 301 The Spectrum of PLEC Sequence Variants and Related Plectinopathies Including Novel Association with Epidermolysis Bullosa Pruriginosa

November 2022 in “Journal of Investigative Dermatology”

Neutrophils quickly respond to skin injury.

research A phosphoinositide-mediated switch of GET pathway receptor dimerization in Arabidopsis

October 2025 in “Proceedings of the National Academy of Sciences”

Phospholipids help plant proteins move by regulating receptor interactions.

research The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1

71 citations , May 2024 in “New England Journal of Medicine”

Ruxolitinib may effectively treat APS-1 by reducing harmful immune responses.

research Intramembrane Proteolysis of Astrotactins

8 citations , January 2017 in “Journal of Biological Chemistry”

Astrotactin-2 is cleaved in a specific way that helps understand its maturation.

research Apoptosis and keratin intermediate filaments

180 citations , April 2002 in “Cell Death and Differentiation”

research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita

22 citations , February 2012 in “Journal of Investigative Dermatology”

A specific gene mutation causes severe skin and nail issues and hair loss.

research Treatment of lichen planopilaris with Janus kinase inhibitors

February 2024 in “Australasian journal of dermatology”

Janus kinase inhibitors may help treat lichen planopilaris.

research Novel Janus Kinase Inhibitors in the Treatment of Dermatologic Conditions

1 citations , December 2023 in “Molecules/Molecules online/Molecules annual”

JAK inhibitors show promise for treating various skin diseases.

research EGFR: stopping stathmin to start the cycle

March 2016 in “Experimental Dermatology”

EGFR helps hair follicles transition properly by controlling Stathmin levels.

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