Results 51 to 60 of about 1,232,023 (188)

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2547-2552, November 2026.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, Volume 46, Issue 11, Page 1732-1745, October 2026.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

GROWTH RETARDATION IN THE LESCH-NYHAN SYNDROME

, 1974
The Lesch-Nyhan syndrome is an inherited neurologic disorder due to deficiency of hypoxanthine-guanine phosphoribosyl transferase and characterized clinically by self-mutilation, choreoathetosis, spasticity and mental retardation. This study demonstrates
Kelley, William N, Skyler, Jay S, Neelon, Francis A, Arnold, William J, Lebovitz, Harold E   +4 more
core   +1 more source

Habitual biting of a finger in a child

Indian Journal of Paediatric Dermatology, 2017
A 3-year-old male child was brought by his parents with a nonhealing ulcer on the right middle finger having no significant history except for an injury sustained to the right elbow in December 2013. On further probing, the mother revealed that the child
K N Sarveswari, M Riswana Jasmine, N Mahesh   +2 more
doaj   +1 more source

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

Clinical Genetics, Volume 110, Issue 3, Page 379-388, September 2026.
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Camille Bergès, Clément Sauvestre, Sophie Naudion, Catherine Vincent Delorme, Thomas Smol, Mélanie Rama, Stephanie Moortgat, Isabelle Maystadt, Rogier Kersseboom, Martina Wilke, Tahsin Stefan Barakat, Yoann Vial, Laurence Perrin, Sandrine Passemard, Farooq Ahmad, Muhammad Umair, Tobias Haack, Mona Grimmel, Alma Kuechler, Anne Slavotinek, Patrick Devine, Ugur Hodoglugil, Faisal Zafar, Erum Afzal, Tracy Dudding‐Byth, Guillaume Jouret, Lucas Herissant, Stephanie Efthymiou, Henry Houlden, Marine Legendre, Vincent Michaud   +30 more
wiley   +1 more source

Attenuated variants of Lesch-Nyhan disease.

, 2010
Contains fulltext : 88406.pdf (Publisher’s version ) (Open Access)Lesch-Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase.
Larovere, L.E., Sampat, R., Kremer, R.D. de, Chang, S.J., Harris, J.C., Nyhan, W., Visser, J.E., Chen, C.J., Cossu, A., Verdu, A., Puig, J.G., Schretlen, D.J., Wu, C.H., Reich, S.G., Ceballos-Picot, I., Jinnah, H.A., Torres, R.J.   +16 more
core   +1 more source

Nucleotide Metabolism in Health and Disease

MedComm, Volume 7, Issue 8, August 2026.
Nucleotide metabolism, including de novo synthesis, salvage pathways, and catabolism, when dysregulated contributes to cancer, immune disorders, metabolic and urological diseases, and radiation injury. Metabolites such as adenosine, cGAMP, NAD, and cAMP and enzymes like RNR are promising therapeutic targets and biomarkers.
Xiaoying Zhao, Yiyu Zeng, Yike Xu, Shu Rao, Mouna Khouchani, Hassna Soummane, Jingyi Li, Rui Liu   +7 more
wiley   +1 more source

Neurological Variants of Lesch-Nyhan Disease

, 2010
A prospective, multicenter international study of neurological manifestations of Lesch-Nyhan disease variants is reported from Emory University School of Medicine, Atlanta ...
J Gordon Millichap, Millichap, J. Gordon
core   +1 more source

Tipping point and molecular mechanism of the transformation of lung adenocarcinoma in situ to invasive adenocarcinoma: A study based on dynamic network markers in systems biology

Clinical and Translational Discovery, Volume 6, Issue 3, June 2026.
A dynamic network biomarker (DNBs) linking the transformation from lung AIS to IAC. Key differential genes and pathways were identified, establishing MIA as the critical tipping point for transformation. Abstract Background Lung adenocarcinoma in situ (AIS), characterised by ground‐glass nodules as observed in computed tomography imaging, generally ...
Lin Shi, Longfu Zhang, Jiebai Zhou, Dawei Yang, Mingxiang Feng, Yong Zhang   +5 more
wiley   +1 more source

Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation

Stem Cell Research
Lesch-Nyhan syndrome (LNS, MIM300322) is a rare inherited disorder caused by mutations in HPRT1 gene. Here we describe the generation of induced pluripotent stem cells (iPSCs) from an infected child carrying the HPRT1 mutation c.508C > T(p.R170X) by ...
Yue Li, Huawei Zhang, Jingyun Guan, Bin Wang, Haiyan Zhang, Yi Liu, Zhongtao Gai   +6 more
doaj   +1 more source