Tuberous sclerosis complex

EP Henske, S Jóźwiak, JC Kingswood… - Nature reviews Disease …, 2016 - nature.com
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …

Lymphangioleiomyomatosis

SR Johnson - Orphan lung diseases: a clinical guide to rare lung …, 2023 - Springer
Lymphangioleiomyomatosis (LAM) is a rare multisystem disease which predominantly
affects women. The disease occurs both sporadically and is common in women with …

Official American Thoracic Society/Japanese Respiratory Society clinical practice guidelines: lymphangioleiomyomatosis diagnosis and management

FX McCormack, N Gupta, GR Finlay… - American journal of …, 2016 - atsjournals.org
Background: Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease that primarily
affects women. The purpose of these guidelines is to provide recommendations for the …

Lymphangioleiomyomatosis: calling it what it is: a low-grade, destructive, metastasizing neoplasm

FX McCormack, WD Travis, TV Colby… - American journal of …, 2012 - atsjournals.org
Lymphangioleiomyomatosis (LAM) is a progressive cystic lung disease primarily affecting
women that has historically been classified and clinically managed as a nonneoplastic …

Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development

K Giannikou, IA Malinowska, TJ Pugh, R Yan… - PLoS …, 2016 - journals.plos.org
Renal angiomyolipoma is a kidney tumor in the perivascular epithelioid (PEComa) family
that is common in patients with Tuberous Sclerosis Complex (TSC) and …

Clinical features, epidemiology, and therapy of lymphangioleiomyomatosis

AM Taveira-DaSilva, J Moss - Clinical epidemiology, 2015 - Taylor & Francis
Lymphangioleiomyomatosis (LAM) is a multisystem disease of women, characterized by
proliferation of abnormal smooth muscle-like LAM cells, leading to the formation of lung …

An integrated, multiparametric flow cytometry chip using “microfluidic drifting” based three-dimensional hydrodynamic focusing

X Mao, AA Nawaz, SCS Lin, MI Lapsley, Y Zhao… - …, 2012 - pubs.aip.org
In this work, we demonstrate an integrated, single-layer, miniature flow cytometry device that
is capable of multi-parametric particle analysis. The device integrates both particle focusing …

New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex

HC Lam, J Nijmeh, EP Henske - The Journal of pathology, 2017 - Wiley Online Library
In just the past 5 years, dramatic changes have occurred in the clinical management of
tuberous sclerosis complex (TSC). Detailed knowledge about the role of the TSC proteins in …

A survey of state-of-the-art surface chemistries to minimize fouling from human and animal biofluids

C Blaszykowski, S Sheikh, M Thompson - Biomaterials science, 2015 - pubs.rsc.org
Upon contact with bodily fluids, synthetic materials spontaneously acquire a layer of various
species (most notably proteins) on their surface. The concern with respect to biomedical …

Exonic Mutations of TSC2/TSC1 Are Common but Not Seen in All Sporadic Pulmonary Lymphangioleiomyomatosis

KR Badri, L Gao, E Hyjek, N Schuger… - American journal of …, 2013 - atsjournals.org
Pulmonary lymphangioleiomyomatosis (LAM) is a rare, progressive disease affecting almost
exclusively women that is seen in both patients with tuberous sclerosis complex (TSC) and …