research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
Search
for
Sort by
Research
690-720 / 1000+ resultsresearch Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research Identification of the Ovine Keratin-Associated Protein 21-1 Gene and Its Association with Variation in Wool Traits
The KRTAP21-1 gene affects wool yield and can help improve wool production.
research Transcriptional regulation of the thymus master regulator Foxn1
Foxn1 gene regulation is crucial for thymus development but not for hair growth.
research Diagnostic Value of VDR in Bone Metastasis and Prognosis of Patients with Breast Cancer and Expression Correlation between Vitamin D Receptor and Hairless Protein
Low Vitamin D receptor levels in breast cancer are linked to worse outcomes and more bone metastases, and could be a marker for prognosis.
research A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
A specific gene mutation causes long hair in Angora rabbits.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Forensic skeletal and molecular anthropology face to face: Combining expertise for identification of human remains
Combining skeletal and molecular anthropology improves identifying human remains.
research Isolation and identification of endophytic actinobacteria from Citrullus colocynthis (L.) Schrad and their antibacterial properties
Certain bacteria from the Citrullus colocynthis plant may be a new source of antibiotics to fight drug-resistant diseases.
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 Quantitation of human mitochondrial DNA and whole mtGenomes sequencing of fingernail/hair shaft samples
Mitochondrial DNA from nails and hair can be effectively analyzed for forensic use.
research The potential role of hsa_circ_0001079 in androgenetic alopecia via sponging hsa‐miR‐136‐5p
hsa_circ_0001079 may help diagnose and treat hair loss.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Non-surgical Modalities of Facial Rejuvenation and Aesthetics
Non-surgical treatments like thread lifts, PRP therapy, HIFU, and radiofrequency effectively rejuvenate and tighten facial skin.
research Nonsurgical Facial Esthetic Procedures
Nonsurgical facial treatments are becoming more popular due to their natural-looking results and minimal invasiveness.
research Refractory/relapse thrombocytopenia in a patient with Evans' syndrome successfully treated with zanubrutinib
A girl with Evans' syndrome had her low platelet count successfully treated with zanubrutinib.
research Construction and functional analysis of ceRNA regulatory network related to the development of secondary hair follicles in Inner Mongolia cashmere goats
The research found key RNA networks that may control hair growth in cashmere goats.
research CRISPR/Cas9-mediatedVDRknockout plays an essential role in the growth of dermal papilla cells through enhanced relative genes
Removing the VDR gene in skin cells reduces their growth and affects hair-related genes.
research Integration of Point-of-Care Technology in the Decoding Process of Single Nucleotide Polymorphism for Healthcare Application †
Portable point-of-care testing can improve quick and accurate genetic disorder detection.
research An In Situ Chemotherapy Drug Combined with Immune Checkpoint Inhibitor for Chemoimmunotherapy
Combining specific nanoparticles with immune therapy significantly improves cancer treatment.
research MicroRNA-148a Controls Epidermal and Hair Follicle Stem/Progenitor Cells by Modulating the Activities of ROCK1 and ELF5
MicroRNA-148a is crucial for maintaining healthy skin and hair growth by affecting stem cell functions.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research IRF2BP2 genes provide new insights into coat type and fiber composition variation in sheep
The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
research The Roles of Keratinocytes in the Initiation, Progression and Maintenance of Hidradenitis Suppurativa
Keratinocytes contribute to hidradenitis suppurativa by causing inflammation and worsening the condition.
research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
research Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
Consider rare forms of CAH for accurate diagnosis and treatment.
research Detection of a Second KAP22 Family Member in Sheep and Analysis of Its Genetic Variation and Associations with Selected Wool Fibre Traits
The KRTAP22-2 gene in sheep does not significantly affect wool traits.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
research Dietary and Genetic Aspects of Polycystic Ovary Syndrome (PCOS) in Polish Women-Part II: Association of
Genetic factors in PCOS are complex, with potential influences from the MC4R gene.
research Characterisation of Four New Genes in the Ovine KAP19 Family
Four new genes related to sheep wool were discovered, showing genetic diversity.