research Homozygous whole body Cbs knockout in adult mice features minimal pathology during ageing despite severe homocysteinemia
Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
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150-180 / 1000+ resultsresearch Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research O19 CYLD cutaneous syndrome tumours demonstrate increased NF-κB signalling and diminished collagen organisation.
Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Signal integrator function of CXXC5 in Cancer
CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
research Fluorescence Activated Cell Sorting (FACS) of CK15 Cells in Canine Hair Follicular Tissue
Canine hair follicle cells show stem cell properties, aiding hair growth.
research Electronic Circular Dichroism Imaging (ECD i ) Casts a New Light on the Origin of Solid‐State Chiroptical Properties
The research found that the properties of solid-state Electronic Circular Dichroism (ss-ECD) are influenced by the orientation of local crystals, which could help in examining and mapping chiral materials like pharmaceutical ingredients.
research Case of Cronkhite Canada syndrome shows improvement with enteral supplements.
Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
research Collagen triple helix repeat containing-1 promotes functional recovery of sweat glands by inducing adjacent microvascular network reconstruction in vivo
CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
research Development of Chinese Version of Polycystic Ovary Syndrome Health-Related Quality of Life Questionnaire (Chi-PCOSQ)
The Chinese version of the PCOS quality of life questionnaire is reliable and valid for Chinese-speaking women with PCOS.
research P095 The Very Interesting Small Bowel Lesions of Cronkhite-Canada Syndrome
Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
research Variation in the ovine trichohyalin gene and its association with wool curvature
Variation in the TCHH gene affects wool curliness in sheep.
research An Update of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research Congenital Adrenal Hyperplasia
Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research sm“FISH”ing for Hedgehog
Hedgehog signaling controls hair follicle development and can affect skin cancer growth.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research 778 Designing and utilizing a c-Rel specific bioassay in drug repurposing screen for HNSCC
A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Hedgehog signalling in skin development and cancer
The hedgehog signalling pathway is key in skin development and basal cell carcinoma, offering insights for prevention and treatment.
research Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.
research Cronkhite–Canada Syndrome With Multiple Mesenteric Lymphadenopathy: A Case Report
Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research CD98hc (SLC3A2) regulation of skin homeostasis wanes with age
CD98hc's role in skin health decreases with age.
research Chemical Fingerprint and Quantitative Analysis for the Quality Evaluation of Platycladi cacumen by Ultra-performance Liquid Chromatography Coupled with Hierarchical Cluster Analysis
The new method is rapid, sensitive, and accurate for evaluating the quality of the medicinal herb Platycladi cacumen.
research 1123 COPPER LOADING (CuL) STUDIES IN BRINDLED (Br) MOUSE HEMIZYGOTES AND HETEROZYGOTES
Copper treatments increase copper in all tissues, but brindled female mice accumulate much more copper in their kidneys without clinical effects, unlike brindled male mice where brain copper deficiency is clinically significant.
research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.