Results 41 to 50 of about 4,354 (166)

Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity [PDF]

The SLC45A2 gene encodes a Membrane-Associated Transporter Protein (MATP). Mutations of this gene cause oculocutaneous albinism type 4 (OCA4). However, the molecular mechanism of its action in melanogenesis has not been elucidated.
Bhin, J, Bin, BH, Cho, EG, Choi, DH, Hwang, D, Lee, AY, Lee, TR, Nam, YJ, Shin, DW, Shin, M, Yang, SH   +10 more
core   +1 more source

Utility and Safety of Romiplostim in Pediatric Allogeneic Stem Cell Transplantation

Pediatric Transplantation, Volume 29, Issue 8, December 2025.
ABSTRACT Background The use of romiplostim, a thrombopoietin agonist, has increased in the last decade for the treatment of immune mediated thrombocytopenia and severe aplastic anemia. Its utility has been explored in the management of delayed platelet engraftment and secondary platelet failure during stem cell transplant (SCT), but its use has ...
Srividhya Senthil, Abdul Moothedath, Jane Elizabeth Potter, Heather Mcgrath Wilkinson, Eden Whiteside, Ramya Nataraj, Omima Mustafa, Claire Horgan, Denise Bonney, Sarah Brett, Rob Wynn   +10 more
wiley   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Loomulike tappurrakkude aktiivsuse tsütomeetriline määramine [PDF]

, 2008
Loomulikud tappurrakud (ingl natural killers, NK) on loomulikku immuunsust tagavad lümfotsüüdid, mis on võimeli­sed hävitama teisi rakke ilma eelneva immunoloogilisekogemuseta.
Aints, Alar, Everaus, Hele, Štšerbakova, Anna   +2 more
core   +2 more sources

Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant

Clinical Case Reports, Volume 13, Issue 9, September 2025.
ABSTRACT Oculocutaneous albinism type IA (OCA1A) is a rare autosomal recessive disorder caused by variants in the TYR gene, resulting in complete loss of tyrosinase activity and absence of melanin production. In this study, we report a novel missense variant, TYR (NM_000372.5):c.143A>C (p.Gln48Pro), found within exon 1 and mapped to chr11: g.89178096A ...
Raghad N. Shihab, Rusul Thabit Hamid, Mostafa Neissi, Javad Mohammadi‐Asl, Motahareh Sheikh‐Hosseini, Elaheh Nekouei   +5 more
wiley   +1 more source

Ocular Abnormalities in 127 Cats Presented for Companion Animal Eye Registry (CAER) Examination in the United States and Canada

Veterinary Ophthalmology, Volume 28, Issue 5, Page 862-865, September 2025.
ABSTRACT Study Objective To investigate the prevalence and clinical appearance of ocular abnormalities in a US and Canadian population of cats registered with the Companion Animal Eye Registry (CAER) between 2013 and 2023. Methods All complete (131) feline CAER exam forms from 2013 to 2023 in the OFA database, were reviewed. Available pedigrees of cats
Emma C. Collins, Kathryn A. Diehl
wiley   +1 more source

Role of the RAB27/SYTL Axis in Tumor Microenvironment Construction

Cancer Science, Volume 116, Issue 7, Page 1815-1822, July 2025.
This review focuses on the role of the RAB27/SYTL axis in various cancer types associated with tumor microenvironment modifications. The importance of this pathway and the potential therapeutic strategies targeting vesicle production for the treatment of cancer are also discussed.
Miwa Tanaka, Takuro Nakamura
wiley   +1 more source

Screening assays for primary haemophagocytic lymphohistiocytosis in children presenting with suspected macrophage activation syndrome [PDF]

, 2014
BACKGROUND: Primary haemophagocytic lymphohistiocytosis (HLH) screening assays are increasingly being performed in patients presenting with macrophage activation syndrome (MAS).
Anoop, P, Brogan, PA, Cruikshank, M, Eleftheriou, D, Gilmour, K, Nikolajeva, O, Rao, A, Rao, K   +7 more
core  

A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses [PDF]

, 2015
Background: Hydrocephalus in Friesian horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. The occurrence is probably related to a founder effect and inbreeding in the population.
Back, Willem, Bastiaansen, John WM, Boegheim, Iris JM, Dibbits, Bert W, Ducro, Bart J, Hellinga, Ids, Leegwater, Peter AJ, Monroe, Glen R, Nijman, Isaac J, Schurink, Anouk, van Steenbeek, Frank G, Vos-Loohuis, Manon   +11 more
core   +3 more sources