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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.

Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?

research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?

January 2022 in “Function”

Studying rare genetic disorders can help us understand and treat common diseases better.

research Reviewer #3 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells

January 2024

CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.

research Tissue resident and follicular Treg cell differentiation is regulated by CRAC channels

40 citations , March 2019 in “Nature Communications”

CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.

research Expression of caspase-14 and keratin-19 in the human epidermis and appendages during fetal skin development

19 citations , February 2013 in “Archives of Dermatological Research”

research Different Ligands of the TRPV3 Cation Channel Cause Distinct Conformational Changes as Revealed by Intrinsic Tryptophan Fluorescence Quenching

7 citations , May 2015 in “Journal of biological chemistry/The Journal of biological chemistry”

Different ligands change the shape of the TRPV3 ion channel in unique ways.

research Role of Transient Receptor Potential Vanilloid 4 Channel in Skin Physiology and Pathology

12 citations , June 2020 in “Sultan Qaboos University medical journal”

TRPV4 channel affects skin health and could be a target for treating skin disorders.

Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis

research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis

June 2024 in “British Journal of Dermatology”

KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.

research TRP Channels in Skin Biology and Pathophysiology

124 citations , December 2016 in “Pharmaceuticals”

TRP channels in the skin are important for sensation and health, and targeting them could help treat skin disorders.

research Keratin 14 in skin and hair follicle of rats during postnatal development period

January 2001 in “Acta Academiae Medicine Militaris Tertiae”

K14 expression in young rats differs from adults.

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