Results 271 to 280 of about 255,701 (284)

Oral mucosal manifestations with identical mutations to the bone marrow in a patient with VEXAS syndrome

Rheumatology &Autoimmunity, EarlyView.
Lilian Vasaitis, Lena Blomstrand, Tatjana Pandzic, Miklos Gulyas, Panagiotis Baliakas, Viktor Ljungström   +5 more
wiley   +1 more source

Folding, misfolding, and regulation of intracellular traffic of G protein‐coupled receptors involved in the hypothalamic–pituitary–gonadal axis

Andrology, EarlyView.
Abstract Background G protein‐coupled receptors are a large and functionally diverse family of membrane receptors involved in a number of biological processes. Like other proteins, G protein‐coupled receptors need to be properly folded in order to traffic to the plasma membrane and interact with agonist.
Alfredo Ulloa‐Aguirre, Ross C. Anderson, Teresa Zariñán, Rubén Gutiérrez‐Sagal, Eduardo Jardón‐Valadez, Claire L. Newton   +5 more
wiley   +1 more source

Surgical outcomes of a congenital nystagmus family with a missense mutation in the FRMD7 gene. [PDF]

Heliyon
Liu J, Wang M, Pang H, Liu F, Bu J.
europepmc   +1 more source

Advances in the genetics of refractive errors: Contributions from the CREAM consortium

Acta Ophthalmologica, EarlyView.
Abstract The Consortium for Refractive Error and Myopia (CREAM) was established in 2011, bringing together an international team of researchers studying more than 30 cohorts. Since its establishment, CREAM has played a pivotal role in research investigating the genetics of myopia and other refractive errors, serving as a key driver of progress in the ...
Sze Wai Rosa Li, Xi He, Louise Terry, Virginie J. M. Verhoeven, Samantha Sze‐Yee Lee, Gareth Lingham, Jeremy A. Guggenheim, David A. Mackey, Seang‐Mei Saw, Caroline C. W. Klaver, Chi Pui Pang, CREAM Consortium   +11 more
wiley   +1 more source

A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4. [PDF]

Front Psychiatry
Al-Hassnan Z, AlDosary M, AlHargan A, AlQudairy H, Almass R, Alahmadi KO, AlShahrani S, AlBakheet A, Almuhaizea MA, Taylor RW, Colak D, Kaya N.   +11 more
europepmc   +1 more source

A de novo missense mutation in PPP2R5D alters dopamine pathways and morphology of iPSC-derived midbrain neurons. [PDF]

Stem Cells
Carter JL, Halmai JANM, Waldo JJ, Vij PA, Anguiano M, Villegas IJ, Du YX, Nolta J, Fink KD.   +8 more
europepmc   +1 more source

A DIO2 missense mutation and its impact on fetal response to PRRSV infection. [PDF]

BMC Vet Res
Ko H, Pasternak JA, Mulligan MK, Hamonic G, Ramesh N, MacPhee DJ, Plastow GS, Harding JCS.   +7 more
europepmc   +1 more source

A missense mutation in human INSC causes peripheral neuropathy. [PDF]

EMBO Mol Med
Yeh JY, Chao HC, Hong CL, Hung YC, Tzou FY, Hsiao CT, Li JL, Chen WJ, Chou CT, Tsai YS, Liao YC, Lin YC, Lin S, Huang SY, Kennerson M, Lee YC, Chan CC.   +16 more
europepmc   +1 more source

A Novel Missense Mutation of c.965C>T (p.Ala322Val) in the Human <i>GALNS</i> Gene Results in Severe Mucopolysaccharidosis Type IVA. [PDF]

Iran J Pathol
Safavi M, Setoodeh A, Ghoddoosi M.
europepmc   +1 more source

Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma. [PDF]

Front Oncol
Hao Y, Wu R, Chen X, Shen Y, Chou M, Yang J.   +5 more
europepmc   +1 more source