research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
Search
for
Sort by
Research
210-240 / 1000+ resultsresearch Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research S100A8 induces cyclophosphamide-induced alopecia via NCF2/NOX2-mediated ferroptosis
Blocking S100A8 can reduce chemotherapy-induced hair loss.
research Manganese Content in Hair of Patients with Parkinson’s Disease: Manganese Deficiency and Susceptibility Towards Parkinson’s Disease
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Locations of synthesis of hair structural proteins in human anagen follicles
Hair structural proteins are synthesized sequentially in specific cells, offering a new way to study hair proteins and defects.
research Evaluation of hair structural abnormalities in children with different neurological diseases
Hair examination helps diagnose rare neurological diseases in children.
research A Possible Role of Keratinocytes of Skin and Mucous Membranes in Prion Propagation and Transmission
Skin cells might help spread prion diseases like Creutzfeldt-Jakob disease.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Intracellular protons accelerate aging and switch on aging hallmarks in mice
Acid inside cells speeds up aging and turns on aging signs in mice.
research Heart Failure Due to Cardiac Transthyretin Amyloidosis
A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
research Genetic association of complement component 2 polymorphism with systemic lupus erythematosus
The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
research A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
A gene mutation in mice causes severe skin disorder similar to a human condition.
research Systemic Lupus Erythematosus With Acute Inflammatory Demyelinating Polyneuropathy: A Case Report and Review of the Literature
A woman with lupus and severe nerve damage improved with specific treatments.
research Alpha Smooth Muscle Actin role in Androgenetic Alopecia Pathogenesis:
Reduced alpha smooth muscle actin may cause hair loss in androgenetic alopecia.
research A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT
The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research Forsythiaside A protects against focal cerebral ischemic injury by mediating the activation of the Nrf2 and endoplasmic reticulum stress pathways
Forsythiaside A helps reduce brain damage from lack of blood flow by activating certain protective pathways.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Hair abnormalities and neurological disease
Hair changes could indicate neurological diseases and help monitor treatment.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Abstract 2469: Increased cathepsin B expression in cultured tuberous sclerosis skin tumor cells and patient tumor tissues
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
research 085 Coordinate expressions of cyclin-dependent kinase inhibitors and high sulfur protein in human hair follicles
research A functional polymorphism in interleukin-1α (IL1A) gene is associated with risk of alopecia areata in Chinese populations
A certain genetic variation in the IL1A gene may lower the risk of a hair loss condition in Chinese people.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
research Perspectives of Kennedy's disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research Chronic inflammatory demyelinating polyneuropathy associated with alopecia totalis and Sjögren syndrome
Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.