Results 71 to 80 of about 2,293 (174)

SAXS fingerprints of aldehyde dehydrogenase oligomers

Data in Brief, 2015
Enzymes of the aldehyde dehydrogenase (ALDH) superfamily catalyze the nicotinamide adenine dinucleotide-dependent oxidation of aldehydes to carboxylic acids.
John J. Tanner
doaj   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

The needs of family members of people with severe or profound intellectual disabilities when collaborating with healthcare professionals: a systematic review

Journal of Intellectual Disability Research, Volume 69, Issue 1, Page 1-29, January 2025.
Abstract Background Collaboration with healthcare professionals is crucial in arranging necessary lifelong support for people with intellectual disabilities. However, family members often face challenges when collaborating with healthcare professionals.
K. van Beurden, F. R. Vereijken, N. Frielink, P. J. C. M. Embregts   +3 more
wiley   +1 more source

SJÖGREN-LARSSON SYNDROME ASSOCIATED WITH MYELODYSPLASTIC SYNDROME: A CASE REPORT

Hematology, Transfusion and Cell Therapy
Introduction: The Sjögren-Larsson Syndrome (SSL) is a rare autoimmune disease that causes glandular inflammation, normally in salivary and lacrimal glands.
SCC Carneiro, ACG Lavor, JVG Gama, PRC Passos, MML Melo, JVC Goes, LR Sampaio, LO Laurindo, SMM Magalhães, RF Pinheiro   +9 more
doaj   +1 more source

Studying fatty aldehyde metabolism in living cells with pyrene-labeled compounds

Journal of Lipid Research, 2012
The lack of fatty aldehyde dehydrogenase function in Sjögren Larsson Syndrome (SLS) patient cells not only impairs the conversion of fatty aldehydes into their corresponding fatty acid but also has an effect on connected pathways. Alteration of the lipid
Markus A. Keller, Katrin Watschinger, Karsten Lange, Georg Golderer, Gabriele Werner-Felmayer, Albin Hermetter, Ronald J.A. Wanders, Ernst R. Werner   +7 more
doaj   +1 more source

The NF1 somatic mutational landscape in sporadic human cancers [PDF]

, 2017
Background Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome.
Cooper, David Neil, Frayling, Ian Martin, Philpott, Charlotte, Tovell, Hannah, Upadhyaya, Meena   +4 more
core   +2 more sources

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

American Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.
Abstract Mental illnesses are one of the biggest contributors to the global disease burden. Despite the increased recognition, diagnosis and ongoing research of mental health disorders, the etiology and underlying molecular mechanisms of these disorders are yet to be fully elucidated.
Venuja Sriretnakumar, Ricardo Harripaul, James L. Kennedy, Joyce So   +3 more
wiley   +1 more source

Case Report: Sjogren-Larsson Syndrome: Two Cases from One Family

Journal of Rehabilitation, 2006
Sjogren–Larsson Syndrome (SLS) is an autosomal recessive disorder characterized by generalized Ichthyosis, mental retardation, spastic diplegia or tetraplegia and epilepsy.
Parvaneh Karim-Zadeh
doaj  

Farnesyl Phosphatase, a Corpora allata Enzyme Involved in Juvenile Hormone Biosynthesis in Aedes aegypti [PDF]

, 2013
Background: The juvenile hormones (JHs) are sesquiterpenoid compounds that play a central role in insect reproduction, development and behavior. The late steps of JH III biosynthesis in the mosquito Aedes aegypti involve the hydrolysis of farnesyl ...
Clifton, Mark E., Mayoral, Jamie G., Noriega, Fernando G., Nouzova, Marcela, Nyati, Pratik, Rivera-Perez, Crisalejandra   +5 more
core   +3 more sources

Epidemiological studies in Malaysia and Sweden on associations between smoking, silica exposure and the risk of developing rheumatoid arthritis [PDF]

, 2012
Rheumatoid arthritis (RA) is a chronic, inflammatory disease, frequently associated with joint destruction. Knowledge regarding the aetiology of RA is mainly generated on Caucasian populations.
Yahya, Abqariyah
core   +1 more source