Results 151 to 160 of about 6,753,476 (214)

A Case of Siblings with End-Stage Kidney Disease and Retinal Degeneration Suggestive of Partial Alström Syndrome.

Nephron
Shinkawa K, Ishii A, Kimura T, Toriu N, Nakagawa N, Wada T, Sakai K, Endo S, Yokoi H, Matsubara T, Kosaki K, Kosugi S, Yanagita M.   +12 more
europepmc   +1 more source

Unraveling the genetics of feline hypertrophic cardiomyopathy: a multiomics study of 138 cats. [PDF]

G3 (Bethesda)
Kaplan JL, Rivas VN, Vandewege MW, Wouters JR, Harris SP, Meurs KM, Stern JA.   +6 more
europepmc   +1 more source

Genetics of inherited retinal dystrophies - Global insights and the importance of Omani research.

Oman J Ophthalmol
Harikrishna B, Al-Hattali AS, Al-Lawati F, Ganesh A.   +3 more
europepmc   +1 more source

Infantile Dilated Cardiomyopathy in Alström Syndrome. [PDF]

Cureus
Van Huffel J, Derycke E, Detaille T, Moniotte S, Hubrechts J.   +4 more
europepmc   +1 more source

Effectiveness of the Dual GIP/GLP1-Agonist Tirzepatide in 2 Cases of Alström Syndrome, a Rare Obesity Syndrome.

J Clin Endocrinol Metab
Ferch M, Peitsch I, Kautzky-Willer A, Greber-Platzer S, Stättermayer AF, Krebs M, Scherer T.   +6 more
europepmc   +1 more source

Long non-coding RNAs in humans: Classification, genomic organization and function. [PDF]

Noncoding RNA Res
Chodurska B, Kunej T.
europepmc   +1 more source

Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy. [PDF]

Yonago Acta Med
Hanaki K, Kinoshita T, Fujimoto M, Sonoyama-Kawashima Y, Kanzaki S, Namba N.   +5 more
europepmc   +1 more source

Obesity-Related Ciliopathies: Focus on Advances of Biomarkers. [PDF]

Int J Mol Sci
Zhang Q, Huang Y, Gao S, Ding Y, Zhang H, Chang G, Wang X.   +6 more
europepmc   +1 more source

Expanding the Mutation Spectrum for Inherited Retinal Diseases. [PDF]

Genes (Basel)
Lynn J, Huang SJ, Trigler GK, Kingsley R, Coussa RG, Bennett LD.   +5 more
europepmc   +1 more source

Update on NKCC2 regulation in the thick ascending limb (TAL) by membrane trafficking, phosphorylation, and protein-protein interactions. [PDF]

Front Physiol
Maskey D, Granados Pineda J, Ortiz PA.
europepmc   +1 more source