Research & Literature

The pathophysiology, diagnosis, and treatment of dry eye disease.

Messmer EM

Deutsches Arzteblatt international 2015; (112(5)):71-81; quiz 82.

[Epidermal barrier - molecular structure and disorders in selected ichthyoses].

Śniegórska D, Kowalewski C, Wertheim-Tysarowska K

Postepy biochemii 2016; (62(1)):36-45.

A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations.

Bongers EMHF, Shelton LM, Milatz S, et al.

Journal of the American Society of Nephrology : JASN 2017; (28(10)):3118-3128 doi:10.1681/ASN.2016080881.

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.

Klar J, Piontek J, Milatz S, et al.

PLoS genetics 2017; (13(7)):e1006897 doi:10.1371/journal.pgen.1006897.

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.

Hadj-Rabia S, Brideau G, Al-Sarraj Y, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2018; (20(2)):190-201 doi:10.1038/gim.2017.71.

Clinical efficacy of combined topical 0.05% cyclosporine A and 0.1% sodium hyaluronate in the dry eyes with meibomian gland dysfunction.

Kim HY, Lee JE, Oh HN, et al.

International journal of ophthalmology 2018; (11(4)):593-600 doi:10.18240/ijo.2018.04.09.

[HYPOKALEMIC METABOLIC ALKALOSIS – A REPORT OF SIX CASES].

Galešić K, Horvatić I, Ilić M, et al.

Lijecnicki vjesnik 2016; (138(9-10)):260-5.

Regeneration of Lacrimal Gland Function to Maintain the Health of the Ocular Surface.

Kawakita T

Investigative ophthalmology & visual science 2018; (59(14)):DES169-DES173 doi:10.1167/iovs.17-23576.

Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.

Meyers N, Nelson-Williams C, Malaga-Dieguez L, et al.

American journal of kidney diseases : the official journal of the National Kidney Foundation 2019; (73(3)):425-428 doi:10.1053/j.ajkd.2018.08.015.

Sudomotor Dysfunction.

Cheshire WP

Seminars in neurology 2020; (40(5)):560-568 doi:10.1055/s-0040-1713847.

Roundtable on Preseason Heat Safety in Secondary School Athletics: Prehospital Care of Patients With Exertional Heat Stroke.

Miller KC, Casa DJ, Adams WM, et al.

Journal of athletic training 2021; (56(4)):372-382 doi:10.4085/1062-6050-0173.20.

A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome.

Alzahrani AS, Hussein M, Alswailem M, et al.

Kidney international 2021; (100(2)):415-429 doi:10.1016/j.kint.2021.02.023.

Pathophysiological aspects of the thick ascending limb and novel genetic defects: HELIX syndrome and transient antenatal Bartter syndrome.

Vargas-Poussou R

Pediatric nephrology (Berlin, Germany) 2022; (37(2)):239-252 doi:10.1007/s00467-021-05019-6.

Characteristics of electrolyte imbalance and pseudo-bartter syndrome in hospitalized cystic fibrosis children and adolescents.

Abdul Aziz D, Siddiqui F, Abbasi Q, et al.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2022; (21(3)):514-518 doi:10.1016/j.jcf.2021.09.013.

Claudins in kidney health and disease.

Jo CH, Kim S, Kim GH

Kidney research and clinical practice 2022; (41(3)):275-287 doi:10.23876/j.krcp.21.279.

Current methodology and cell sources for lacrimal gland tissue engineering.

Kasal K, Güven S, Utine CA

Experimental eye research 2022; (221()):109138 doi:10.1016/j.exer.2022.109138.

Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly.

Sewerin S, Piontek J, Schönauer R, et al.

Genes & diseases 2022; (9(5)):1301-1314 doi:10.1016/j.gendis.2021.06.006.

Impact of claudin-10 deficiency on amelogenesis: Lesson from a HELIX tooth.

Obtel N, Le Cabec A, Nguyen TN, et al.

Annals of the New York Academy of Sciences 2022; (1516(1)):197-211 doi:10.1111/nyas.14865.

Proper Recognition and Management of Exertional Heat Stroke in a High School Cross-Country Runner: A Validation Clinical Case Report.

Garrett B, Lopez RM, Szymanski MR, Eidt D

Journal of athletic training 2022; (57(6)):586-591 doi:10.4085/1062-6050-0462.21.

Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia.

Callea M, Bignotti S, Semeraro F, et al.

Children (Basel, Switzerland) 2022; (9(9)) doi:10.3390/children9091357.

Potassium Disorders: Hypokalemia and Hyperkalemia.

Kim MJ, Valerio C, Knobloch GK

American family physician 2023; (107(1)):59-70.

Clinical and molecular features of four families with CLDN10-related HELIX syndrome.

Qudair A, Hussein M, Alowain M, et al.

European journal of medical genetics 2023; (66(12)):104886 doi:10.1016/j.ejmg.2023.104886.

Claudin-10 Decrease in the Submandibular Gland Contributes to Xerostomia.

He L, Yuan SZ, Mao XD, et al.

Journal of dental research 2024; (103(2)):167-176 doi:10.1177/00220345231210547.

Claudin-10 Expression and the Gene Expression Pattern of Thick Ascending Limb Cells.

Brideau G, Cheval L, Griveau C, et al.

International journal of molecular sciences 2024; (25(7)) doi:10.3390/ijms25074008.

HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases.

Martínez-Romero MC, Hernández-Contreras ME, Bafalliu-Vidal JA, et al.

Genes 2024; (15(6)) doi:10.3390/genes15060687.

The Absence of Claudin-10 in the Enamel Organ Alters Its Integrity.

Nguyen TN, Ribes S, Andrique C, et al.

Journal of dental research 2026; (105(3)):385-395 doi:10.1177/00220345251349109.

HELIX syndrome in childhood. A claudinopathy with a salt-wasting tubulopathy phenotype with hypermagnesemia.

Enrique Madrid S, Lucas García J

Nefrologia 2026; (46(1)):501362 doi:10.1016/j.nefroe.2025.501362.

Cystic Fibrosis beyond Childhood: A Case Report of Recurrent Heat-Induced Electrolyte Disturbances Unmasking a Late Diagnosis.

Roldán D, León-Póo M, López-Melero E, Shabaka A

Nephron 2026; (150(5)):338-341 doi:10.1159/000550562.

Exertional and classic heat stroke: A narrative review.

Perez RI, Londono MJ, Everitt B, et al.

The American journal of emergency medicine 2026; (102()):49-54 doi:10.1016/j.ajem.2026.01.008.

Heat-Related Illness and Heatstroke: A Narrative and Clinical Review for Emergency Clinicians.

Bridwell RE, Long B, Koyfman A, Lacy AJ

Cureus 2026; (18(4)):e107294 doi:10.7759/cureus.107294.

Anhidrosis: An underappreciated factor in dermatologic diseases.

Lutz GF, Davis MDP, Sandroni P, et al.

Journal of the American Academy of Dermatology 2026; (95(3)):741-747 doi:10.1016/j.jaad.2026.05.027.

Clinical phenotypes and genetic analysis of 30 children with Gitelman syndrome.

Wang W, Zhao F, Ding G, et al.

Frontiers in pediatrics 2026; (14()):1853435 doi:10.3389/fped.2026.1853435.

Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis and xerostomia syndrome caused by a novel claudin-10 variant in an adult with hypokalaemic metabolic alkalosis.

Mantha S, Marwah ST, Shekhawat VS, Verma V

BMJ case reports 2026; (19(9)) doi:10.1136/bcr-2026-275838.