Results 111 to 120 of about 31,197,545 (235)

Neurofibromatosis type 2 (NF2) [PDF]

, 2001
Review on Neurofibromatosis type 2 (NF2), with data on clinics, and the genes ...
Gusella, JF
core   +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

Neurofibromatosis-1

, 2001
Extensive retinal microvascular malformation involving both small and large retinal vessels. (Ref: BJO 2002:86, p282-284). Anatomy: Retina. Pathology: Retinal microvascular malformations. Disease/Diagnosis: Neurofibromatosis type 1.
William F. Hoyt, MD
core  

Neurofibromatosis

, 1987
LINK (Let’s Increase Neurofibromatosis Knowledge), the British Neurofibromatosis Association, organised a major European Symposium at Egham, Surrey, Feb 5-7, 1987, and clarified the distinguishing features of two syndromes with separate genetic markers ...
J Gordon Millichap
core   +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

Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome

Scientific Reports
Moyamoya vasculopathy secondary to various genetic disorders is classified as moyamoya syndrome (MMS). Recent studies indicate MMS occurs due to a combination of genetic modifiers and causative mutations for the primary genetic disorders.
Akikazu Nakamura, Shunsuke Nomura, Shoko Hara, Thiparpa Thamamongood, Taketoshi Maehara, Tadashi Nariai, Shasha Khairullah, Kay Sin Tan, Kenko Azuma, Ayako Chida‐Nagai, Yoshiyuki Furutani, Takahiro Hori, Koji Yamaguchi, Takakazu Kawamata, Constantin Roder, Hiroyuki Akagawa   +15 more
doaj   +1 more source

RAS diseases in children

Haematologica, 2014
RAS genes encode a family of 21 kDa proteins that are an essential hub for a number of survival, proliferation, differentiation and senescence pathways. Signaling of the RAS-GTPases through the RAF-MEK-ERK pathway, the first identified mitogen-associated
Charlotte M. Niemeyer
doaj   +1 more source

Macrocephaly in neurofibromatosis type 1: a sign post for optic pathway gliomas? [PDF]

, 2011
Optic pathway gliomas, which occur in 15-20% of paediatric patients with neurofibromatosis type 1, are the most common central nervous system tumour associated with this neurocutaneous disorder.
Barbara Goeggel Simonetti, Fleischhauer, Johannes M.C., Kevin Wingeier, Miriam Diepold, Johannes Fleischhauer, Schindera, Christina, Maja Steinlin, Claude B. Nauer, Diepold, Miriam, Christina Schindera, Nauer, Claude B, Goeggel Simonetti, Barbara, Steinlin, Maja, Wingeier, Kevin   +13 more
core   +2 more sources

Hippo Pathway–YAP/TAZ Signaling: Molecular Mechanisms, Biological Function, Diseases, and Therapeutic Targets

MedComm, Volume 7, Issue 10, October 2026.
The Hippo–YAP/TAZ–TEAD pathway integrates mechanical and biochemical cues to govern organ growth, regeneration, cancer, and fibrosis. This review dissects pathway physiology, TEAD structural pharmacology and ligandable pockets, and therapeutic strategies spanning palmitoylation‐pocket inhibitors, PROTAC degraders, and gene/RNA therapies, highlighting ...
Xiaodan Qu, Zhan‐you Wang
wiley   +1 more source