Results 91 to 100 of about 14,767 (207)

A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling

Therapeutics and Clinical Risk Management, 2015
Wei-Xue Jia,1,2 Xue-Min Xiao,1,2 Jian-Bing Wu,1,2 Yi-Ping Ma,1,2 Yi-Ping Ge,1,2 Qi Li,1,2 Qiu-Xia Mao,1,2 Cheng-Rang Li1,2 1Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China; 2Jiangsu
Jia WX, Xiao XM, Wu JB, Ma YP, Ge YP, Li Q, Mao QX, Li CR   +7 more
doaj  

Rare variants modulating phenotype in NF1 carriers

Scientific Reports
Neurofibromatosis type 1 (NF1) is a rare genetic disorder with highly variable phenotypes, ranging from psychosocial challenges and congenital malformations to benign tumors and even aggressive cancers.
Elena Pasquinelli, Giulia Casamassima, Giulia Brunelli, Omaima Belakhdar, Samantha Minetto, Salvatore Grosso, Roberto Canitano, Stefania Marsili, Ignazio Martellucci, Salvadora Tindara Miano, Roberto Petrioli, Margherita Baldassarri, Romina D’Aurizio, Chiara Fallerini, Alessandra Renieri   +14 more
doaj   +1 more source

Epigenetic Mechanisms in Neurofibromatosis Types 1 and 2

Epigenomes
Neurocutaneous syndromes, known as phakomatoses, encompass a diverse group of congenital conditions affecting the nervous system and skin, with neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) among the most clinically significant.
Christina Stylianides, Gavriel Hadjigavriel, Paschalis Theotokis, Efstratios Vakirlis, Soultana Meditskou, Maria Eleni Manthou, Iasonas Dermitzakis   +6 more
doaj   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1879-1883, August 2026.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Urokinase Plasminogen Activator Receptor‐Associated Protein (uPARAP) as a Potential Next Generation Molecular Target for Treatment of Gastrointestinal Stromal Tumors (GIST)

International Journal of Cancer, Volume 159, Issue 3, Page 797-808, 1 August 2026.
A key component of the collagen internalization and lysosomal degradation cellular machinery, uPARAP may contribute to cancer progression. Here, the authors explored the expression of uPARAP in gastrointestinal stromal tumors using well‐annotated clinical patient samples and specimens from cell line‐ and patient‐derived xenografts.
Chao‐Chi Wang, Flavia Paternostro, Agnieszka Wozniak, Lore De Cock, Luna De Sutter, Kimberly Verbeeck, Ulla Vanleeuw, Daniël Gorgels, Che‐Jui Lee, Raf Sciot, Patrick Schöffski   +10 more
wiley   +1 more source

Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report

European Journal of Breast Health, 2017
Neurofibromatosis type 1 (NF1) is autosomal dominant and it is the most common hereditary disease. This case report is about a woman and her daughter. Both of them are NF1 and mother also has metachronous bilateral breast carcinoma.
Duygu Dursun, Safiye Aktaş, Zekiye Altun, Nur Olgun   +3 more
doaj   +1 more source

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, Volume 110, Issue 2, Page 268-269, August 2026.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source

Juvenile Myelomonocytic Leukemia in a Child with Underlying Mutations in Neurofibromatosis Type 1 and FLT3 Genes: A Case Report

Indian Pediatrics Case Reports
Background: Juvenile myelomonocytic leukemia (JMML) is known to be associated with certain genetic variants involved in the RAS pathway. We describe a child with JMML associated with Neurofibromatosis Type 1 (NF1) variant.
Reshma Thomas, Abhilasha Sampagar
doaj   +1 more source

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source

Australian Guideline for the Identification and Management of Hypertension in Children and Adolescents

Journal of Paediatrics and Child Health, EarlyView.
N. G. Larkins, T. Medley, A. Black, K. A. Bolton, S. Chaturvedi, M. Clark, G. M. Gabb, J. P. Glenning, C. Grimes, R. C. Huang, A. Hyland, C. Jeffries‐Stokes, L. Kalman, S. Kaul, S. Kim, S. McTaggart, R. Kowalski, S. X. Li, S. McNab, D. Metz, A. S. Mihailidou, J. Monin, M. Nelson, M. Pathak, D. Roebuck, M. P. Schlaich, R. Sleaby, C. Quinlan, J. P. Mynard   +28 more
wiley   +1 more source