Search Results - "Mortimer, S."
-
1
Development and physiological functions of the lymphatic system: insights from human genetic studies of primary lymphedema
Published in Physiological reviews (01-10-2021)“…Primary lymphedema is a long-term (chronic) condition characterized by tissue lymph retention and swelling that can affect any part of the body, although it…”
Get full text
Journal Article -
2
Effect of genotype, gender and age on sheep meat quality and a case study illustrating integration of knowledge
Published in Meat science (01-11-2014)“…Subtle breed differences exist for meat quality traits and the Merino does stand out, although many comparisons are confounded by production site or lack of…”
Get full text
Journal Article -
3
The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings
Published in Clinical genetics (01-10-2013)“…Historically, primary lymphoedema was classified into just three categories depending on the age of onset of swelling; congenital, praecox and tarda…”
Get full text
Journal Article -
4
Self-care treatment for lymphoedema of lymphatic filariasis using integrative medicine
Published in British journal of dermatology (1951) (20-12-2023)“…Lymphatic filariasis (LF) is a neglected tropical disease presenting mainly as lymphoedema (elephantiasis). At present, LF is not effectively treated…”
Get full text
Journal Article -
5
Genetic variation in colour stability traits of lamb cuts under two packaging systems
Published in Meat science (01-11-2019)“…Data from samples of longissmus lumborum (LL) and semimembranosus (SM) muscles from 391 lamb carcasses, which had been packaged in overwrap (OW) or high oxygen…”
Get full text
Journal Article -
6
Multisubstrate isotope labeling and metagenomic analysis of active soil bacterial communities
Published in mBio (15-07-2014)“…Soil microbial diversity represents the largest global reservoir of novel microorganisms and enzymes. In this study, we coupled functional metagenomics and DNA…”
Get full text
Journal Article -
7
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis
Published in The Journal of clinical investigation (01-08-2016)“…Hydrops fetalis describes fluid accumulation in at least 2 fetal compartments, including abdominal cavities, pleura, and pericardium, or in body tissue. The…”
Get full text
Journal Article -
8
Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort
Published in PloS one (13-10-2022)“…Lipoedema is a chronic adipose tissue disorder mainly affecting women, causing excess subcutaneous fat deposition on the lower limbs with pain and tenderness…”
Get full text
Journal Article -
9
Enhancing Soil Organic Matter as a Route to the Ecological Intensification of European Arable Systems
Published in Ecosystems (New York) (01-11-2018)“…Soil organic matter (SOM) is declining in most agricultural ecosystems, impacting multiple ecosystem services including erosion and flood prevention, climate…”
Get full text
Journal Article -
10
Cairo consensus on the IVF laboratory environment and air quality: report of an expert meeting
Published in Reproductive biomedicine online (01-06-2018)“…This proceedings report presents the outcomes from an international Expert Meeting to establish a consensus on the recommended technical and operational…”
Get full text
Journal Article -
11
Case Report: Progressive central conducting lymphatic abnormalities in the RASopathies. Two case reports, including successful treatment by MEK inhibition
Published in Frontiers in genetics (27-09-2022)“…The RASopathies are a group of genetic conditions resulting from mutations within the RAS/mitogen-activated protein kinase (RAS-MAPK) pathway. Lymphatic…”
Get full text
Journal Article -
12
Genetic parameters for meat quality traits of Australian lamb meat
Published in Meat science (01-02-2014)“…Genetic parameters were estimated for a range of meat quality traits recorded on Australian lamb meat. Data were collected from Merino and crossbred progeny of…”
Get full text
Journal Article -
13
Genetic parameters for wool traits, live weight, and ultrasound carcass traits in Merino sheep
Published in Journal of animal science (01-05-2017)“…Genetic correlations between 29 wool production and quality traits and live weight and ultrasound fat depth (FAT) and eye muscle depth (EMD) traits were…”
Get full text
Journal Article -
14
PSENEN and NCSTN Mutations in Familial Hidradenitis Suppurativa (Acne Inversa)
Published in Journal of investigative dermatology (01-07-2011)Get full text
Journal Article -
15
Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy
Published in American journal of human genetics (10-02-2012)“…We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. Initial…”
Get full text
Journal Article -
16
Phase II study of ceralasertib (AZD6738) in combination with durvalumab in patients with advanced gastric cancer
Published in Journal for immunotherapy of cancer (01-07-2022)“…BackgroundTargeting the DNA damage repair (DDR) pathways is an attractive strategy for boosting cancer immunotherapy. Ceralasertib (AZD6738) is an oral kinase…”
Get full text
Journal Article -
17
Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas
Published in Human genetics (01-01-2009)“…Milroy disease (hereditary lymphoedema type I, MIM 153100) is a congenital onset primary lymphoedema with autosomal dominant inheritance. Mutations in the…”
Get full text
Journal Article -
18
A critical review of the physiological importance and analysis of sperm movement in mammals
Published in Human reproduction update (01-09-1997)“…The identification of human sperm hyperactivated motility has potential importance in sperm function tests, as well as in quality control assays and in…”
Get full text
Journal Article -
19
A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon
Published in International journal of molecular sciences (01-08-2018)“…Lymphedema is characterized by chronic swelling of any body part caused by malfunctioning or obstruction in the lymphatic system. Primary lymphedema is often…”
Get full text
Journal Article -
20
Human lymphatic pumping measured in healthy and lymphoedematous arms by lymphatic congestion lymphoscintigraphy
Published in The Journal of physiology (15-08-2007)“…Axillary surgery for breast cancer partially obstructs lymph outflow from the arm, chronically raising the lymphatic smooth muscle afterload. This may lead to…”
Get full text
Journal Article