Results 41 to 50 of about 553,208 (143)

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood

, 2012
We report two siblings that presented hypotonia and very early-onset parkinsonism. Homozygosity mapping using SNP genome scan data identified a candidate locus that was 12.2 Mega base pairs.
Aslıhan Tolun, Hanagasi, Haşmet Ayhan, Çiğdem Köroğlu, Tasan, Ersan, Dursun, Burcu, Burcu Dursun, Erşan Taşan, Lohmann, Ebba, Ebba Lohmann, Hasmet A. Hanagasi, TOLUN, ASLIHAN, Koroglu, Cigdem   +11 more
core   +1 more source

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients [PDF]

, 2017
Melatonin is synthesized from serotonin and it is excreted as sulphatoxymelatonin in urine. We aim to evaluate urinary sulphatoxymelatonin as a biomarker of brain serotonin status in a cohort of patients with mutations in genes related to serotonin ...
Basiliki Zouvelou, Marta Molero-Luis, Luis González Gutiérrez-Solana, Arrabal, Luisa, Fernández Ramos, Joaquín Alejandro, Javier de las Heras, Zouvelou, Basiliki, Ormazabal, Aida, Pons, Roser, Artuch, Rafael, Joaquín-Alejandro Fernandez-Ramos, Fernandez-Ramos, Joaquin-Alejandro, Frederic Sedel, Molero-Luis, Marta, Domingo, Rosario, Garcia-Cazorla, Angels, Angels Garcia-Cazorla, De las Heras Montero, Javier Adolfo, Ibáñez Micó, Salvador, Jaume Campistol, Roser Pons, Eduardo Lopez-Laso, Opladen, Thomas, García Cazorla, Angels, Lopez-Laso, Eduardo, Aida Ormazabal, Ibañez-Mico, Salvador, Sedel, Frederic, González-Gutiérrez-Solana, Luis, Batllori, Marta, Gutierrez-Solana, Luis Gonzalez, Rafael Artuch, Thomas Opladen, López Laso, Eduardo, Salvador Ibáñez-Micó, Rosario Domingo, Campistol, Jaume, Marta Batllori, González Gutiérrez-Solana, Luis, Luisa Arrabal, Heras, Javier de Las   +40 more
core   +2 more sources

Pigments, Chromatophore Structure, and Gene Expression Underlying Colour Polytypy of a Panamanian Poison Frog

Molecular Ecology, Volume 35, Issue 1, January 2026.
ABSTRACT Colour polytypism represents an example of phenotypic diversification shaped by genetic divergence and ecological pressures. Poison frogs of the genus Oophaga (Dendrobatidae) are highly polytypic in coloration, making them an ideal system for investigating the genetic and physiological basis of colour variation.
Vasiliki Mantzana‐Oikonomaki, Giselle Tamayo‐Castillo, Víctor Vásquez‐Cháves, Abel Mora‐Machado, William J. Zamora Ramirez, Roberto Ibáñez, Heike Pröhl, Ariel Rodríguez   +7 more
wiley   +1 more source

Ruthenium nanomicellar catalysis under MW irradiation” and “Development of an alternative synthetic strategy for Sepiapterin" [PDF]

, 2022
The first project regards the academic research and have the aim to develop new sustainable synthesis through nanomicellar catalytic system assisted with MW irradiation.
Saponaro, Simone
core   +1 more source

Levodopa Use and Long‐Term Benefit in Different Dystonia Phenotypes

Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.
Background Dopaminergic changes have been reported in various forms of dystonia beyond dopa‐responsive dystonia (DRD). Besides DRD, levodopa (LDopa) is generally not considered effective in dystonia and may worsen it. This study assesses the impact of LDopa on different dystonia phenotypes. Objectives The patient database of Tampere University Hospital
Rebekka M. Ortiz, Jari Honkaniemi, Gessica Sala   +2 more
wiley   +1 more source

Mutations in SRD5B1 (AKR1D1), the gene encoding Delta(4)-3-oxosteroid 5 beta-reductase, in hepatitis and liver failure in infancy [PDF]

, 2003
Background: A substantial group of patients with cholestatic liver disease in infancy excrete, as the major urinary bile acids, the glycine and taurine conjugates of 7alpha-hydroxy-3-oxo-4-cholenoic acid and 7alpha, 12alpha-dihydroxy-3- oxo-4-cholenoic ...
Duran, M., Scambler, PJ, Custard, E. J., Bouquet, J, Lemonde, H. A., Clayton, P. T., Duran, M, Overmars, H, Bouquet, J., Scambler, P.J., Lemonde, H., Clayton, P.T., Custard, EJ, Scambler, P. J., Clayton, PT, Lemonde, HA, Custard, E.J., Overmars, H.   +17 more
core   +2 more sources

BH4 Oxidation‐Derived H2O2 Activates ERK1/2 Signaling via B‐Raf in Rat Dorsal Root Ganglion Neurons

Journal of Neurochemistry, Volume 169, Issue 11, November 2025.
Tetrahydrobiopterin (BH4) is linked to various pain conditions, but targeting its synthesis in vivo is prone to side effects. We now characterized a so far unknown mechanism of BH4‐induced signaling in sensory neurons. In rat dorsal root ganglion (DRG) neurons, we identified neither BH4 nor its oxidation product, BH2, but the byproduct H2O2 to induce ...
Milad Mohammadi, Maike Siobal, Jörg Isensee, Philipp N. Ostermann, Tim Hucho   +4 more
wiley   +1 more source

Melatonin‐Producing Microorganisms: A Rising Research Interest in Their Melatonin Biosynthesis and Effects on Crops

Journal of Pineal Research, Volume 77, Issue 5, September 2025.
ABSTRACT Melatonin is imperative in animals and plants, contributing to multiple physiological roles, and its microbial production could offer an eco‐friendly alternative to synthetic melatonin. However, detecting and characterizing it in microorganisms remains ongoing, and the biosynthesis pathways are still poorly explored.
Sang‐Mo Kang, Ashim Kumar Das, Da‐Sol Lee, Byung‐Wook Yun, Marino B. Arnao, In‐Jung Lee   +5 more
wiley   +1 more source

L-dopa responsive dystonia due to sepiapterin reductase deficiency, a tetrahydrobiopterin deficiency presenting without hyperphenylalaninaemia [PDF]

, 2003
Sepiapterin reductase (SPR) catalyses the last step in the biosynthesis of tetrahydrobiopterin (BH4), the essential cofactor for the aromatic amino acid hydroxylases as well as glycerol-ether monooxygenase and the three isoforms of nitric oxide ...
35th European Human Genetics Conference (ESHG), Scerri, Christian A., Felice, A. E., Farrugia, Rosienne, Soler, D., Parascandolo, Raymond   +5 more
core