PMC Articles for MedGen (Select 1639277) - PMC

Select item 105714621.

Zimmermann-Laband syndrome and infantile systemic hyalinosis: an enigma with two separate terms with overlapping features: a case report

Fatemeh Owlia, Alireza Navabazam, Mohammad-Hasan akhavan-karbasi, Mohammad Moein Derakhshan Barjoei

BMC Pediatr. 2023; 23: 506. Published online 2023 Oct 13. doi: 10.1186/s12887-023-04344-z

PMCID:: PMC10571462

Abstract Article PDF–1.1M

Select item 65996952.

Zimmermann-Laband syndrome: Clinical and cytogenetic study in two related patients

Sadegh Shirian, Hassan Shahabinejad, Abolfazl Saeedzadeh, Khosrow Daneshbod, Hengameh Khosropanah, Mostafa Mortazavi, Yahya Daneshbod

J Clin Exp Dent. 2019 May; 11(5): e452–e456. Published online 2019 May 1. doi: 10.4317/jced.55214

PMCID:: PMC6599695

Abstract Article PDF–1.7M

Select item 65621473.

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca²⁺-Activated K⁺ Channel SK3 Cause Zimmermann-Laband Syndrome

Christiane K. Bauer, Pauline E. Schneeberger, Fanny Kortüm, Janine Altmüller, Fernando Santos-Simarro, Laura Baker, Jennifer Keller-Ramey, Susan M. White, Philippe M. Campeau, Karen W. Gripp, Kerstin Kutsche

Am J Hum Genet. 2019 Jun 6; 104(6): 1139–1157. Published online 2019 May 30. doi: 10.1016/j.ajhg.2019.04.012

PMCID:: PMC6562147

Abstract Article PDF–2.5M

Select item 63278304.

An Extremely Rare Presentation of Zimmermann–Laband Syndrome in a Twin

Manjunath Reddy, Vijay Mehetre, Priyadarshani Jayprakash Gir, Varsha Ranmare

Ann Maxillofac Surg. 2018 Jul-Dec; 8(2): 352–354. doi: 10.4103/ams.ams_203_17

PMCID:: PMC6327830

Abstract Article PDF–972K

Select item 49015055.

Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

André Mégarbané, Rashid Al-Ali, Nancy Choucair, Monko Lek, Ena Wang, Moncef Ladjimi, Catherine M. Rose, Remy Hobeika, Yvette Macary, Ramzi Temanni, Puthen V. Jithesh, Aouatef Chouchane, Konduru S Sastry, Remy Thomas, Sara Tomei, Wei Liu, Francesco M. Marincola, Daniel MacArthur, Lotfi Chouchane

BMC Med Genet. 2016; 17: 42. Published online 2016 Jun 10. doi: 10.1186/s12881-016-0304-4

PMCID:: PMC4901505

Abstract Article PDF–865K

Select item 98898116.

Channelopathy of small- and intermediate-conductance Ca²⁺-activated K⁺ channels

Young-Woo Nam, Myles Downey, Mohammad Asikur Rahman, Meng Cui, Miao Zhang

Acta Pharmacol Sin. 2023 Feb; 44(2): 259–267. Published online 2022 Jun 17. doi: 10.1038/s41401-022-00935-1

PMCID:: PMC9889811

Abstract Article PDF–1.5M

Select item 98040837.

Phenotypic expansion of KCNH1‐associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub‐regional locations

Mao‐Qiang Tian, Ren‐Ke Li, Fan Yang, Xiao‐Mei Shu, Juan Li, Jing Chen, Long‐Ying Peng, Xiao‐Hua Yu, Chang‐Jian Yang

CNS Neurosci Ther. 2023 Jan; 29(1): 270–281. Published online 2022 Oct 25. doi: 10.1111/cns.14001

PMCID:: PMC9804083

Abstract Article PDF–10M

Select item 93633908.

Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis

Giulia Napoli, Noemi Panzironi, Alice Traversa, Caterina Catalanotto, Valentina Pace, Francesco Petrizzelli, Agnese Giovannetti, Sara Lazzari, Carlo Cogoni, Marco Tartaglia, Massimo Carella, Tommaso Mazza, Antonio Pizzuti, Chiara Parisi, Viviana Caputo

Mol Neurobiol. 2022; 59(8): 4825–4838. Published online 2022 May 31. doi: 10.1007/s12035-022-02886-4

PMCID:: PMC9363390

Abstract Article PDF–3.6M

Select item 88442259.

Channelopathy-causing mutations in the S₄₅A/S₄₅B and HA/HB helices of K_Ca2.3 and K_Ca3.1 channels alter their apparent Ca²⁺ sensitivity

Razan Orfali, Young-Woo Nam, Hai Minh Nguyen, Mohammad Asikur Rahman, Grace Yang, Meng Cui, Heike Wulff, Miao Zhang

Cell Calcium. Author manuscript; available in PMC 2023 Mar 1.

Published in final edited form as: Cell Calcium. 2022 Mar; 102: 102538. Published online 2022 Jan 8. doi: 10.1016/j.ceca.2022.102538

PMCID:: PMC8844225

Abstract Article PDF–1.6M

Select item 856804810.

Syndromic Deafness Gene ATP6V1B2 Controls Degeneration of Spiral Ganglion Neurons Through Modulating Proton Flux

Shiwei Qiu, Weihao Zhao, Xue Gao, Dapeng Li, Weiqian Wang, Bo Gao, Weiju Han, Shiming Yang, Pu Dai, Peng Cao, Yongyi Yuan

Front Cell Dev Biol. 2021; 9: 742714. Published online 2021 Oct 21. doi: 10.3389/fcell.2021.742714

PMCID:: PMC8568048

Abstract Article PDF–5.7M

Select item 678395911.

Zimmermann-Laband-1 Syndrome: Clinical, Histological, and Proteomic Findings of a 3-Year-Old Patient with Hereditary Gingival Fibromatosis

Federica Guglielmi, Edoardo Staderini, Federica Iavarone, Laura Di Tonno, Patrizia Gallenzi

Biomedicines. 2019 Sep; 7(3): 48. Published online 2019 Jun 29. doi: 10.3390/biomedicines7030048

PMCID:: PMC6783959

Abstract Article PDF–2.9M

Select item 591680312.

Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand

Surasak Sangkhathat, Wison Laochareonsuk, Wanwisa Maneechay, Kanita Kayasut, Piyawan Chiengkriwate

J Pediatr Genet. 2018 Jun; 7(2): 67–73. Published online 2018 Feb 16. doi: 10.1055/s-0038-1632395

PMCID:: PMC5916803

Abstract Article PDF–124K

Select item 537884313.

Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation

Ibis Menendez, Claudia Carranza, Mariana Herrera, Nely Marroquin, Joseph Foster, II, Filiz Basak Cengiz, Guney Bademci, Mustafa Tekin

Clin Case Rep. 2017 Apr; 5(4): 376–379. Published online 2017 Feb 8. doi: 10.1002/ccr3.761

PMCID:: PMC5378843

Abstract Article PDF–563K

Select item 844061014.

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K⁺ channelopathies

Karen W. Gripp, Sarah F. Smithson, Ingrid J. Scurr, Julia Baptista, Anirban Majumdar, Germaine Pierre, Maggie Williams, Lindsay B. Henderson, Ingrid M. Wentzensen, Heather McLaughlin, Lisette Leeuwen, Marleen E. H. Simon, Ellen van Binsbergen, Mary Beth P. Dinulos, Julie D. Kaplan, Anne McRae, Andrea Superti-Furga, Jean-Marc Good, Kerstin Kutsche

Eur J Hum Genet. 2021 Sep; 29(9): 1384–1395. Published online 2021 Feb 16. doi: 10.1038/s41431-021-00818-9

PMCID:: PMC8440610

Abstract Article PDF–1.8M

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