Results 111 to 120 of about 55,212 (214)

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

GENETIC PROFILE OF RETINOBLASTOMA PATIENTS FROM A REFERRAL HOSPITAL IN GUJARAT

National Journal of Medical Research, 2012
 Background & objectives: Retinoblastoma is the most common intraocular malignancy of infant and childhood. It is the first disease for which a genetic etiology of cancer has been described and the first suppressor gene identified.
Sunil G Oza, Brijesh M Patel , Niyati R Parikh, Sweta B Prajapati, Hrishikesh R Jadav, Pensi C A   +5 more
doaj  

The impact of physiological oxidants on triggering amyloid formation of the cell cycle regulator protein p16INK4A

Protein Science, Volume 35, Issue 8, August 2026.
Abstract The tumor suppressor protein p16INK4a plays a key role in cell cycle control and is frequently inactivated in human cancers. We previously discovered that oxidation of its single cysteine residue induces a structural transition from the functional monomeric form into inactive amyloid fibrils.
Briana R. Smith, Nicholas J. Magon, Aakriti Sethi, Shelby G. Gray, Sarah G. Heath, Vanessa K. Morris, Christoph Göbl   +6 more
wiley   +1 more source

Risk definition and management strategies in retinoblastoma: current perspectives

Clinical Ophthalmology, 2015
Fariba Ghassemi, Alireza Khodabande Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Tehran Province, Islamic Republic of Iran Abstract: This manuscript focuses on high-risk factors of metastatic disease in ...
Ghassemi F, Khodabande A
doaj  

Mitochondria Dictate Progressive Versus Bimodal Aging of the Mammary Gland

Aging Cell, Volume 25, Issue 8, August 2026.
Breast cancer shows a bimodal age distribution with a peak at 45 and higher peak at 65. Using mice with different mitochondrial genomes, we show progressive and bimodal patterns of aging of the mammary gland with distinct pro‐tumorigenic age windows. This finding may shed light on the bimodal distribution in humans.
Edmund Charles Jenkins, Mrittika Chattopadhyay, Thelma Mashaka, Miguel Torres‐Martin, Daniela Sia, Igor Bado, Doris Germain   +6 more
wiley   +1 more source

Resistance‐exercise‐induced stress intervenes in TGF‐β signaling by cooperatively downregulating nuclear αB‐crystallin and SMAD4 in human skeletal muscle fibers

The FEBS Journal, Volume 293, Issue 15, Page 4624-4644, August 2026.
Alpha‐crystallin B chain (CRYAB) has been reported to stabilize mothers against decapentaplegic homolog 4 (SMAD4) in transforming growth factor‐β (TGF‐β) signaling, enabling target gene transcription. We show nuclear CRYAB–SMAD4 interaction for the first time in human skeletal muscle fibers and its regulation by exercise.
Kirill Schaaf, Cassandra Duda, Tihomir Kostov, Patrick Diel, Käthe Bersiner, Wilhelm Bloch, Sebastian Gehlert, Daniel Jacko   +7 more
wiley   +1 more source

NUP153 immunoreactivity in neuroendocrine neoplasms supports the diagnosis of NET versus NEC and is modulated by post‐translational modifications

Journal of Neuroendocrinology, Volume 38, Issue 8, August 2026.
Abstract Nucleoporins (NUPs) constitute the nuclear pore complex (NPC) and are essentially involved in nuclear transport, chromatin organization, and context‐dependent gene regulation. However, the role of NUPs in neuroendocrine (tumor)biology and related diagnostic potential is poorly defined.
Sven Mattern, Arslan Ali, Vanessa Hollfoth, Eyyub Bag, Katharina Kluthe, Esther Herpel, Frank Bergmann, Thomas Muley, Michael Meister, Judith Lehmann‐Koch, Benjamin Goeppert, Arne Warth, Kai Breuhahn, Irina Bonzheim, Stephan Singer, Kerstin Singer   +15 more
wiley   +1 more source

An analysis of pediatric retinoblastoma medical malpractice litigation. [PDF]

PLoS One
Miller V, Reese AD, Foote K, Navarro A, Galfano A, Hietanen C.   +5 more
europepmc   +1 more source

Complex Regulation of RETINOBLASTOMA‐RELATED's Interactions With E2Fs via Phosphorylation

Plant, Cell &Environment, Volume 49, Issue 8, Page 4717-4733, August 2026.
ABSTRACT Arabidopsis RETINOBLASTOMA‐RELATED (RBR) regulates cell proliferation by interacting with E2F transcription factors and DIMERISATION PARTNER, RB‐LIKE, E2F AND MULTI‐VULVAL CLASS B COMPLEX (DREAM) components. Although CDK‐CYCD phosphorylation is believed to affect RBR's E2F‐binding capacity, the precise phosphorylation events inhibiting RBR's ...
Aladár Pettkó‐Szandtner, Fruzsina Vadai‐Nagy, Magdolna Gombos, Attila Hlacs, Eszter Molnár, Annamária Marton, Csaba Vizler, Rasik Shiekh Bin Hamid, Péter Kaló, Attila Fehér, Zoltán Magyar   +10 more
wiley   +1 more source

Orbital Fungating Mass as a Rare Manifestation of Retinoblastoma: A Case Study in Palliative Care. [PDF]

Am J Case Rep
Susanty A, Maliani K, Kartiwa A, Cahyadi D, Utami P, Kristina Y, Leoni ND, Pemberiadi DM.   +7 more
europepmc   +1 more source