Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation | Citedby Results | Ophthalmic Research | Karger Publishers

Skip to Main Content

Skip Nav Destination

Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation

Ophthalmic Res (2015) 53 (1): 30–35.

This article has been cited by the following articles in journals that are participating in CrossRef Cited-by Linking.

From Genes to Disease: Reassessing LOXHD1 and AGBL1’s Contribution to Fuchs’ Dystrophy

Tatiana Romanovna Tsedilina
Elena Ivanovna Sharova
Alexandra Vasilevna Kanygina
Boris Eduardovich Malyugin
Olga Pavlovna Antonova
Alexandra Vladimirovna Belodedova
Ivan Sergeevich Tkachenko
Aslan Mukhtarovich Gelyastanov
Andrey Vladimirovich Zolotarev
Aleksey Vladimirovich Klokov
Aleksandr Olegovich Murashev
Irina Viktorovna Fedyushkina
Edward Viktorovich Generozov
Liubov Olegovna Skorodumova

International Journal of Molecular Sciences (2025) 26 (7): 3343.

SLC4A11 Revisited: Isoforms, Expression, Functions, and Unresolved Questions

Polina Alekseevna Kovaleva
Elena Sergeevna Kotova
Elena Ivanovna Sharova
Liubov Olegovna Skorodumova

Biomolecules (2025) 15 (6): 875.

Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study

Elizabeth E. Blue
Kristin J. Moore
Kari E. North
Tania A. Desrosiers
Suzan L. Carmichael
Janson J. White
Jessica X. Chong
Michael J. Bamshad
Mary M. Jenkins
Lynn M. Almli
Lawrence C. Brody
Sharon F. Freedman
Jennita Reefhuis
Paul A. Romitti
Gary M. Shaw
Martha Werler
Denise M. Kay
Marilyn L. Browne
Marcia L. Feldkamp
Richard H. Finnell
Wendy N. Nembhard
Faith Pangilinan
Andrew F. Olshan

Birth Defects Research (2024) 116 (7)

Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

Lubica Dudakova
Lenka Noskova
Stanislav Kmoch
Martin Filipec
Ales Filous
Alice E. Davidson
Vasileios Toulis
Jana Jedlickova
Pavlina Skalicka
Hana Hartmannova
Viktor Stranecky
Jana Drabova
Drahuse Novotna
Marketa Havlovicova
Zdenek Sedlacek
Petra Liskova
Jian-Min Chen

Human Mutation (2024) 2024: 1.

Harboyan Syndrome: A Novel SLC4A11 Variant With Unique Genotype–Phenotype Correlation

Tejal Magan
Kristin M. Hammersmith
Angela N. Viaene
Priyanka Kumar
Ralph C. Eagle
Tatyana Milman

Cornea (2022) 41 (8): 1053.

Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation

Napaporn Tananuvat
Rak Tananuvat
Wattana Chartapisak
Pongsak Mahanupab
Chananya Hokierti
Metawee Srikummool
Jatupol Kampuansai
Worrachet Intachai
Bjorn Olsen
James R. Ketudat Cairns
Piranit Kantaputra

Journal of Human Genetics (2021) 66 (2): 193.

Energy Shortage in Human and Mouse Models ofSLC4A11-Associated Corneal Endothelial Dystrophies

Wenlin Zhang
Ricardo Frausto
Doug D. Chung
Christopher G. Griffis
Liyo Kao
Angela Chen
Rustam Azimov
Alapakkam P. Sampath
Ira Kurtz
Anthony J. Aldave

Investigative Opthalmology & Visual Science (2020) 61 (8): 39.

Expression of SLC 4A11 protein in mouse and rat medulla: a candidate transporter involved in outer medullary ammonia recycling

Michael T. Gee
Ira Kurtz
Thomas L. Pannabecker

Physiological Reports (2019) 7 (10)

Slc4a11disruption causes duct cell loss and impairs NaCl reabsorption in female mouse submandibular glands

Ning‐Yan Yang
Taro Mukaibo
Xin Gao
Ira Kurtz
James E. Melvin

Physiological Reports (2019) 7 (23)

Mouse Slc4a11 expressed in Xenopus oocytes is an ideally selective H+/OH− conductance pathway that is stimulated by rises in intracellular and extracellular pH

Evan J. Myers
Aniko Marshall
Michael L. Jennings
Mark D. Parker

American Journal of Physiology-Cell Physiology (2016) 311 (6): C945.

SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy

Sangita P. Patel
Mark D. Parker

BioMed Research International (2015) 2015: 1.