PMC Articles for MedGen (Select 1380593) - PMC

Select item 104165151.

A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report

Yeboah Kofi Gyening, Keren Boris, Mignot Cyril, Richard S. Brush, Marie-Cécile Nassogne, Martin-Paul Agbaga

Acta Neuropathol Commun. 2023; 11: 131. Published online 2023 Aug 11. doi: 10.1186/s40478-023-01628-4

PMCID:: PMC10416515

Abstract Article PDF–3.2M

Select item 98232372.

ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis

Yeboah Kofi Gyening, Neeraj Kumar Chauhan, Madison Tytanic, Vicki Ea, Richard S. Brush, Martin-Paul Agbaga

J Lipid Res. 2023 Jan; 64(1): 100317. Published online 2022 Dec 1. doi: 10.1016/j.jlr.2022.100317

PMCID:: PMC9823237

Abstract Article PDF–3.3M

Select item 88865113.

Annular Epidermolytic Ichthyosis Mimicking Greither Disease: A Case Report and Literature Review

Fatimah J. Almuqarrab, Omar Mohammed Alakloby, Jamal Mohammed Alqahtani, Hans Christian Hennies

Am J Case Rep. 2022; 23: e935393-1–e935393-5. Published online 2022 Feb 24. doi: 10.12659/AJCR.935393

PMCID:: PMC8886511

Abstract Article PDF–1.2M

Select item 85283214.

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis

Cherine Charfeddine, Nadia Laroussi, Rahma Mkaouar, Raja Jouini, Olfa Khayat, Aladin Redissi, Amor Mosbah, Hamza Dallali, Achraf Chedly Debbiche, Anissa Zaouak, Sami Fenniche, Sonia Abdelhak, Houda Hammami-Ghorbel

PLoS One. 2021; 16(10): e0258777. Published online 2021 Oct 20. doi: 10.1371/journal.pone.0258777

PMCID:: PMC8528321

Abstract Article PDF–2.0M

Select item 79619835.

The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin

Rasheed A. Bailey, Derek L. Beahm, I. Martha Skerrett

Int J Mol Sci. 2021 Mar; 22(5): 2615. Published online 2021 Mar 5. doi: 10.3390/ijms22052615

PMCID:: PMC7961983

Abstract Article PDF–1.8M

Select item 70397476.

The role of Desmoglein 1 in gap junction turnover revealed through the study of SAM syndrome

Eran Cohen Barak, Lisa M. Godsel, Jennifer L. Koetsier, Marihan Hegazy, Daniella Kushnir-Grinbaum, Helwe Hammad, Nada Danial- Farran, Robert Harmon, Morad Khayat, Ron Bochner, Alon Peled, Mati Rozenblat, Judit Krausz, Ofer Sarig, Jodi L. Johnson, Michael Ziv, Stavit A. Shalev, Eli Sprecher, Kathleen J. Green

J Invest Dermatol. Author manuscript; available in PMC 2021 Mar 1.

Published in final edited form as: J Invest Dermatol. 2020 Mar; 140(3): 556–567.e9. Published online 2019 Aug 26. doi: 10.1016/j.jid.2019.08.433

PMCID:: PMC7039747

Abstract Article PDF–2.4M

Select item 65655617.

Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva

Changxing Li, Jingyao Liang, Pingjiao Chen, Kang Zeng, Rujun Xue, Xin Tian, Liuping Liang, Qi Wang, Minglan Shi, Xibao Zhang

Mol Genet Genomic Med. 2019 Jun; 7(6): e670. Published online 2019 Mar 29. doi: 10.1002/mgg3.670

PMCID:: PMC6565561

Abstract Article PDF–1.4M

Select item 65188798.

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

Tadbir K. Bariana, Veerle Labarque, Jessica Heremans, Chantal Thys, Mara De Reys, Daniel Greene, Benjamin Jenkins, Luigi Grassi, Denis Seyres, Frances Burden, Deborah Whitehorn, Olga Shamardina, Sofia Papadia, Keith Gomez, NIHR BioResource, Chris Van Geet, Albert Koulman, Willem H. Ouwehand, Cedric Ghevaert, Mattia Frontini, Ernest Turro, Kathleen Freson

Haematologica. 2019 May; 104(5): 1036–1045. Prepublished online 2018 Nov 22. doi: 10.3324/haematol.2018.204784

PMCID:: PMC6518879

Abstract Article PDF–1.8M

Select item 32002319.

p63 mediates an apoptotic response to pharmacological and disease-related ER stress in the developing epidermis

Ujwal J. Pyati, Evisa Gjini, Seth Carbonneau, Jeong-Soo Lee, Feng Guo, Cicely A. Jette, David P. Kelsell, A. Thomas Look

Dev Cell. Author manuscript; available in PMC 2012 Sep 13.

Published in final edited form as: Dev Cell. 2011 Sep 13; 21(3): 492–505. doi: 10.1016/j.devcel.2011.07.012

PMCID:: PMC3200231

Abstract Article PDF–4.1M

Select item 128856910.

Mutation in the Gene for Connexin 30.3 in a Family with Erythrokeratodermia Variabilis

Francoise Macari, Marina Landau, Pascal Cousin, Barukh Mevorah, Sarah Brenner, Renato Panizzon, Daniel F. Schorderet, Daniel Hohl, Marcel Huber

Am J Hum Genet. 2000 Nov; 67(5): 1296–1301. Published online 2000 Oct 3. doi: 10.1016/s0002-9297(07)62957-7

PMCID:: PMC1288569

Abstract Article PDF–692K

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