Results 61 to 70 of about 13,993 (190)

Clinical and genetic aspects of albinism [PDF]

Клиническая офтальмология, 2021
V.V. Kadyshev, S.A. Ryazhskaya, O.V. Khalanskaya, N.V. Zhurkova, R.A. Zinchenko Research Center for Medical Genetics, Moscow, Russian Federation Albinism is a clinically and genetically heterogeneous group of hereditary ...
V.V. Kadyshev, S.A. Ryazhskaya, O.V. Khalanskaya, N.V. Zhurkova, R.A. Zinchenko   +4 more
doaj  

Synergistic HMGN1 and VP64 Fusions Potentiate High‐Precision and PAM‐Flexible Base Editing

Advanced Science, Volume 13, Issue 50, 7 September 2026.
A novel CDA1Δ‐SpRY architecture fused with HMGN1 and VP64 yields a nearly PAM‐less base editing platform. By focusing cytosine conversion predominantly at position −18, this synergistic complex ensures highly precise targeting. Demonstrating enhanced efficiency across diverse models, including yeast and rice, the platform offers a robust solution for ...
Xi Luo, Yuyao Qu, Zhengyan Ye, Zheng Li, Yuanyan Zhang, Longjiong Luo, Shaokang Li, Wei Zhao, Ming Wang, Ralph Bock, Jianmin Wan, Junjie Tan   +11 more
wiley   +1 more source

First report of complete albinism in Mazama americana (Erxleben, 1777) in the Biological Reserve of Tapirapé, Oriental Amazon, Brazil

Acta Scientiarum: Biological Sciences, 2020
Albinism is a genetic condition that results in total hypopigmentation of the eyes, fur, skin, hair, scales, and feathers of an organism. Albinism might result in a selective disadvantage for affected animals.
Raquel Ribeiro, Diogenes Henrique de Siqueira-Silva   +1 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Dermatological Disease at a Tertiary Military Hospital in Burundi: A Retrospective Review

International Journal of Dermatology, EarlyView.
Doriane Sabushimike, Alison K. Wright, Marc Nimburanira, Patrick Budengeri, Christopher E. M. Griffiths, Darren M. Ashcroft   +5 more
wiley   +1 more source

A functional prognostic model predicts progression‐free survival in patients with relapsed chronic lymphocytic leukemia treated with ibrutinib + venetoclax

HemaSphere, Volume 10, Issue 9, September 2026.
Abstract Targeted therapies have improved outcomes for patients with chronic lymphocytic leukemia (CLL); yet, not all achieve durable responses. Existing prognostic models, developed for chemoimmunotherapy, have limited predictive value for newer targeted combinations.
Johanne U. Hermansen, Weikaixin Kong, Andrea M. Brodersen, Yanping Yin, Aleksandra Urban, Idun D. Rein, Liye He, Rudi Agius, Rebecca S. Teglgaard, Juho Rousu, Christian Brieghel, Sabina Kersting, Mark‐David Levin, Hoa T. T. Tran, Mattias Mattsson, Juha Ranti, Gerrit‐Jan Veldhuis, Caspar da Cunha‐Bang, Rogier Mous, Julie Dubois, Arnon P. Kater, Jorrit M. Enserink, Carsten U. Niemann, Tero Aittokallio, Sigrid S. Skånland   +24 more
wiley   +1 more source

Teachers' Toolkit for Supporting Students with Albinism in African Classrooms.

A series of activities and resources developed with partners in Malawi and Zambia as part of the the Albinism in Malawi and Zambia (AIMZ) project at Coventry University.
Dart, Gareth, Lund, P.
core   +6 more sources

Characterization of Retinal Thickness in Individuals with Albinism: Baseline Data for a Black South African Population

Clinical Optometry, 2021
Ethan Pillay, Thiroshnee Naidoo, Khadija Asmal, Lilitha Maliwa, Sinenhlanhla Mchunua, Diane Beverly van Staden, Nishanee Rampersad Discipline of Optometry, School of Health Sciences, University of KwaZulu-Natal, Durban X54001, South AfricaCorrespondence:
Pillay E, Naidoo T, Asmal K, Maliwa L, Mchunua S, van Staden DB, Rampersad N   +6 more
doaj  

First report of albinism in the South American catfish Imparfinis mirini (Siluriformes: Heptapteridae)

Revista Mexicana de Biodiversidad, 2017
Albinism is a genetic condition caused by an autosomal recessive gene that affects normal pigmentation in animals. In Neotropical freshwater fish fauna, albinism cases are extremely rare, with only 14 species recorded among more than 6,000 described ...
Pedro S. Manoel, Erika R. Ono, Maria Ines B. Alves   +2 more
doaj   +1 more source

Increased Binding of [18F]Nifene, a PET Imaging Probe for α4β2* Nicotinic Acetylcholinergic Receptors in Hippocampus–Subiculum of Postmortem Human Parkinson's Disease Brain

Synapse, Volume 80, Issue 5, September 2026.
[18F]Nifene, a PET imaging probe for α4β2* nicotinic acetylcholine receptors, was used to discretely measure changes in hippocampus (HP) and subiculum (SUB) of postmortem Parkinson's disease (PD) cases compared to cognitively normal (CN) cases. Significant increased [18F]nifene binding in PD was observed.
Jogeshwar Mukherjee, Fariha Karim, Allyson Ngo, Christopher Liang, Geidy E. Serrano, Thomas G. Beach   +5 more
wiley   +1 more source