Clinical and Translational Science, Volume 19, Issue 1, January 2026.ABSTRACT Clinical genomics and pharmacogenomics have largely remained separate fields, though some genetic variants have overlapping disease risk and drug implications. However, the extent of this overlap is not well studied. To explore this gap, we cross‐referenced genes from the American College of Medical Genetics Secondary Findings v3.2 list with ...
Josiah D. Allen +3 more
wiley +1 more source
Pulmonary lymphangioleiomyomatosis (PLAM)
Lung India, 2007 Pulmonary lymphangioleiomyomatosis (PLAM) is a rare idiopathic, progressive multisystem disorder that predominantly affects women of childbearing age. Here is a report of pulmonary lymphangioleiomyomatosis in 28 years old female who presented with intial
Verma S, Verma Sanjay
doaj
Analysis of a Mouse Skin Model of Tuberous Sclerosis Complex. [PDF]
PLoS ONE, 2016 Tuberous Sclerosis Complex (TSC) is an autosomal dominant tumor suppressor gene syndrome in which patients develop several types of tumors, including facial angiofibroma, subungual fibroma, Shagreen patch, angiomyolipomas, and lymphangioleiomyomatosis ...
Yanan Guo +5 more
doaj +1 more source
Analysis of transplant urgency and benefit via multiple imputation [PDF]
, 2014 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/109279/1/sim6250 ...
Andersen +22 more
core +1 more source
Pulmonary Leiomyomatosis in a Postmenopausal Patient After Previous Hysterectomy: A Case Report
Case Reports in Obstetrics and Gynecology, Volume 2026, Issue 1, 2026.Objective Uterine leiomyoma represents one of the most common pathologies affecting women of reproductive age, often presenting with lower abdominal pain and abnormal bleeding. Benign metastasising leiomyomatosis (BML) is a rare tumour originating from uterine leiomyomas, with the lungs being a common extrauterine location.
Ján Varga +3 more
wiley +1 more source
The dual PI3K/mTOR inhibitor GSK2126458 is effective for treating solid renal tumours in Tsc2+/- mice through suppression of cell proliferation and induction of apoptosis [PDF]
, 2017 Tuberous sclerosis (TSC) is an inherited tumour syndrome caused by mutations in TSC1 or TSC2 that lead to aberrant activation of mTOR. Tumour responses in TSC patients to rapamycin, an allosteric inhibitor of mTOR, or its analogs are partial and ...
Jones, Ashley +5 more
core +1 more source
The first lung transplantation at the Research Institute for Emergency named after N.V. Sklifosovsky
Трансплантология (Москва), 2018 The paper describes the first lung transplantation at the N.V. Sklifosovsky Research Institute of Emergency Care in a female patient with endstage pulmonary lymphangioleiomyomatosis, which has shown a good result during a 6-month follow-up.
M. Sh. Khubutia +19 more
doaj +1 more source
Non-canonical functions of the tuberous sclerosis complex-Rheb signalling axis [PDF]
, 2013 The protein products of the tuberous sclerosis complex (TSC) genes, TSC1 and TSC2, form a complex, which inhibits the small G-protein, Ras homolog enriched in brain (Rheb).
Henske, Elizabeth Petri +1 more
core +1 more source
Single-cell multiomic analysis identifies a HOX-PBX gene network regulating the survival of lymphangioleiomyomatosis cells [PDF]
, 2023 Tasnim Olatoke +16 more
openalex +1 more source
Primary Pulmonary Perivascular Epithelioid Cell Tumour (PEComa): A Case Report
Respirology Case Reports, Volume 13, Issue 12, December 2025.This case presents an extremely rare disease, primary pulmonary PEComa. We provide an overview of the clinicopathological features of PEComa to enhance clinicians' awareness. ABSTRACT Perivascular epithelioid cell tumour (PEComa) is a rare mesenchymal neoplasm; lung is an exceptional primary site.
Yu Sugimoto +4 more
wiley +1 more source