Results 121 to 130 of about 108,120,995 (240)

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

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, Volume 110, Issue 5, Page 527-537, November 2026.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

Proteomic Signatures of Noise‐Induced Hearing Loss in the Mouse Cochlea

Cell Biology International, Volume 50, Issue 10, October 2026.
ABSTRACT Hearing loss affects over 1.5 billion people worldwide and has substantial social, educational, and economic consequences. Although genetic studies have identified numerous hearing‐loss‐associated genes, the molecular changes accompanying noise‐induced hearing loss (NIHL) remain incompletely understood.
Ana Carla Batissoco, Danillo Alencar‐Coutinho, Ana Carolina Ferreira‐Scatone, Stella Diogo‐Cavassana, Jeanne Oiticica, Karina Lezirovitz, Ricardo Ferreira Bento   +6 more
wiley   +1 more source

Diffuse Leptomeningeal Glioneuronal Tumor With Initial Diagnosis of Pilocytic Astrocytoma With Anaplasia: A Case Study

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Diffuse leptomeningeal glioneuronal tumor is a rare central nervous system tumor with imaging findings including leptomeningeal enhancement and nodular/cystic lesions. This case highlights how patients can have differing imaging features, requiring whole‐genome DNA methylation profiling for diagnosis, and demonstrates successful treatment ...
Anita Zhou, Joseph Carmicheal, Jie Chen, Chi Zhang   +3 more
wiley   +1 more source

Neurofibromatosis tipo 1. Revision bibliográfica [PDF]

, 2006
La Neurofibromatosis es una entidad clínica que se clasifica dentro del grupo de las Facomatosis, esuna enfermedad dominante autosomal caracterizada por el crecimiento desordenado de tejidos finosectodérmicos que producen lesiones cutáneas ...
Río Ysla, Maily del, Valle Yánez, Ivelin, Amador Díaz, Martha   +2 more
core  

Intranodal Epithelioid Schwannoma in an Intraparotid Lymph Node: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT An epithelioid schwannoma arising within an intraparotid lymph node is a rare benign lesion that may mimic metastatic melanoma, metastatic carcinoma, or a primary salivary gland neoplasm. Recognizing the intranodal architecture and integrating morphology with an appropriate immunohistochemical panel are essential to avoid misclassification and
Maryam Vajihinejad, Kianoosh Najafi, Mohammad Hossein Ahrar, Ahmad Shamsi   +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

Regulation of ER Stress‐Associated Gene Expression by Lifeguard in Human Breast Cancer Cells

Cancer Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background Despite significant advances in breast cancer therapy, resistance to apoptosis remains a major obstacle to successful treatment. Lifeguard (LFG), an antiapoptotic membrane protein, has been implicated in breast cancer progression; however, its role in endoplasmic reticulum (ER) stress‐associated molecular responses and apoptosis ...
Inga Nebel, Sarah Strauß, Frederik Schlottmann, Lena Maria Herrmann, Peter M. Vogt, Vesna Bucan   +5 more
wiley   +1 more source