Results 111 to 120 of about 930 (131)

Identification of candidate genes associated with bipolar disorder by whole-exome sequencing of a Chinese multi-affected pedigree. [PDF]

BMC Psychiatry
Wang Y, Xu Z, Zhang Y, Li H.
europepmc   +1 more source

A Rare Case of Sporadic Medullary Cystic Kidney Disease with Rapidly Progressive Renal Dysfunction and Renal Enlargement Complicated by Idiopathic Nodular Glomerulosclerosis. [PDF]

Intern Med
Yamashiro Y, Ohashi N, Iwakura T, Isobe S, Fujikura T, Fujigaki Y, Shimizu A, Yasuda H.   +7 more
europepmc   +1 more source

Signalling through RXRβ and its agonist, bexarotene, promotes neuron formation in Xenopus laevis embryos. [PDF]

Biol Open
Lopes Cardoso D, Loizou M, Fourla DD, Woodman C, Guille MJ, Sharpe C.   +5 more
europepmc   +1 more source

Genetic screening in kidney transplant candidates. [PDF]

Clin Kidney J
Le Moal P, Knebelmann B, Hummel A, Gribouval O, Anglicheau D, Legendre C, Morinière V, Heidet L, Dorval G, Antignac C, Servais A.   +10 more
europepmc   +1 more source

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A case of proliferative glomerulosclerosis with compound heterozygous TTC21B mutations

Clinica Chimica Acta, 2022
Mesangial proliferative glomerulonephritis (MsPGN) is the most common clinicopathologic feature of the primary glomerulonephritis. The hereditary susceptibility to MsPGN is rather complex.
Furong Li
exaly   +4 more sources

Retinal dystrophy as part of TTC21B-associated ciliopathy

Ophthalmic Genetics, 2021
Background: TCC21B is a ciliary protein. The most common phenotypic features associated with TCC21B biallelic mutations are nephronophthisis and skeletal abnormalities. To date, retinal dystrophy has been reported in only one patient.
Miriam Ehrenberg, Tamar Ben-Yosef
exaly   +5 more sources

MO042: Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease

Nephrology Dialysis Transplantation, 2022
Massively parallel sequencing (MPS) has propelled precision medicine into the next generation. With genetic data more accessible than ever, the focus has now shifted from obtaining data to converting the acquired data into applicable clinical ...
E. Olinger, Pran Phakdeekitcharoen, Y. Çalişkan, Holly R. Mabillard, Charlie Pickles, Y. Tse, Katrina Wood, J. Sayer   +7 more
semanticscholar   +3 more sources

A Rare Case of Polycystic Kidney Disease due to Pathogenic Variants in the ALG9 and TTC21B Genes

Journal of the American Society of Nephrology: JASN, 2023
Molly Fisher
exaly   +3 more sources

Mutations in TTC21B cause different phenotypes in two childhood cases in China

Nephrology, 2018
AbstractAimThe TTC21B gene is now known as causative of nephronophthisis‐related ciliopathies (NPHP‐RC). We reported two Chinese paediatric cases with end‐stage renal disease and other phenotypes caused by the TTC21B gene mutations.MethodsThe clinical features of Chinese paediatric cases with NPHP‐RC were summarized.
Yong Yao, Hongwen Zhang
exaly   +4 more sources