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Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
Klämbt V, Buerger F, Wang C, Naert T, Richter K, Nauth T, Weiss AC, Sieckmann T, Lai E, Connaughton DM, Seltzsam S, Mann N, Majmundar AJ, Wu CW, Onuchic-Whitford AC, Shril S, Schneider S, Schierbaum L, Dai R, Bekheirnia MR, Joosten M, Shlomovitz O, Vivante A, Banne E, Mane S, Lifton RP, Kirschner KM, Kispert A, Rosenberger G, Fischer KD, Lienkamp SS, Zegers MMP, Hildebrandt F. Klämbt V, et al. Among authors: lai e. J Am Soc Nephrol. 2023 Feb 1;34(2):273-290. doi: 10.1681/ASN.2022010050. Epub 2023 Nov 22. J Am Soc Nephrol. 2023. PMID: 36414417 Free PMC article.
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
Wu CW, Mann N, Nakayama M, Connaughton DM, Dai R, Kolvenbach CM, Kause F, Ottlewski I, Wang C, Klämbt V, Seltzsam S, Lai EW, Selvin A, Senguttuva P, Bodamer O, Stein DR, El Desoky S, Kari JA, Tasic V, Bauer SB, Shril S, Hildebrandt F. Wu CW, et al. Genet Med. 2020 Oct;22(10):1673-1681. doi: 10.1038/s41436-020-0844-z. Epub 2020 Jun 1. Genet Med. 2020. PMID: 32475988 Free PMC article.
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
Majmundar AJ, Buerger F, Forbes TA, Klämbt V, Schneider R, Deutsch K, Kitzler TM, Howden SE, Scurr M, Tan KS, Krzeminski M, Widmeier E, Braun DA, Lai E, Ullah I, Amar A, Kolb A, Eddy K, Chen CH, Salmanullah D, Dai R, Nakayama M, Ottlewski I, Kolvenbach CM, Onuchic-Whitford AC, Mao Y, Mann N, Nabhan MM, Rosen S, Forman-Kay JD, Soliman NA, Heilos A, Kain R, Aufricht C, Mane S, Lifton RP, Shril S, Little MH, Hildebrandt F. Majmundar AJ, et al. Among authors: lai e. Sci Adv. 2021 Jan 1;7(1):eabe1386. doi: 10.1126/sciadv.abe1386. Print 2021 Jan. Sci Adv. 2021. PMID: 33523862 Free PMC article.
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Seltzsam S, Wang C, Zheng B, Mann N, Connaughton DM, Wu CW, Schneider S, Schierbaum L, Kause F, Kolvenbach CM, Nakayama M, Dai R, Ottlewski I, Schneider R, Deutsch K, Buerger F, Klämbt V, Mao Y, Onuchic-Whitford AC, Nicolas-Frank C, Yousef K, Pantel D, Lai EW, Salmanullah D, Majmundar AJ, Bauer SB, Rodig NM, Somers MJG, Traum AZ, Stein DR, Daga A, Baum MA, Daouk GH, Tasic V, Awad HS, Eid LA, El Desoky S, Shalaby M, Kari JA, Fathy HM, Soliman NA, Mane SM, Shril S, Ferguson MA, Hildebrandt F. Seltzsam S, et al. Genet Med. 2022 Feb;24(2):307-318. doi: 10.1016/j.gim.2021.09.010. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906515 Free PMC article.
Phase 1 Study of MK-5475, an Inhaled Soluble Guanylate Cyclase Stimulator, in Participants with Pulmonary Hypertension Associated with Chronic Obstructive Pulmonary Disease.
Bajwa EK, Cislak D, Kumar A, Li D, Messina EJ, Reynders T, Denef JF, Corcea V, Buch KP, Lai E, Stoch SA. Bajwa EK, et al. Among authors: lai e. Int J Chron Obstruct Pulmon Dis. 2024 May 23;19:1105-1121. doi: 10.2147/COPD.S454905. eCollection 2024. Int J Chron Obstruct Pulmon Dis. 2024. PMID: 38803412 Free PMC article. Clinical Trial.
Angiocrine signaling in sinusoidal homeostasis and liver diseases.
Gao J, Lan T, Kostallari E, Guo Y, Lai E, Guillot A, Ding B, Tacke F, Tang C, Shah VH. Gao J, et al. Among authors: lai e. J Hepatol. 2024 May 17:S0168-8278(24)00349-0. doi: 10.1016/j.jhep.2024.05.014. Online ahead of print. J Hepatol. 2024. PMID: 38763358 Review.
1,678 results