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450-480 / 1000+ resultsresearch 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
research Detection of NUDT15 R139C variants and azathioprine utilization in patients with dermatologic conditions
research Highly Conserved Keratin-Associated Protein 7-1 Gene in Yak, Taurine and Zebu Cattle
The KRTAP7-1 gene is very similar across different cattle and yak breeds and likely plays a role in hair strength and shape.
research A Novel Human Type II Cytokeratin, K6hf, Specifically Expressed in the Companion Layer of the Hair Follicle
K6hf is a unique protein found only in a specific layer of hair follicles.
research Polymorphism of Keratin Gene KRT71 and Its Relationship with Wool Properties in Gansu Alpine Fine-Wool Sheep
The GG genotype of the KRT71 gene leads to longer wool in Gansu alpine fine-wool sheep.
research Gene detection in a family with monilethrix and observation of the treatment effect with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research Synthesis of 11α-hydroxyprogesterone hartens
Researchers successfully made new compounds for hormone level tests, but one attempt led to an unexpected product, correcting a past error.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research K6/ODC transgenic mice as a sensitive model for carcinogen identification
K6/ODC transgenic mice are effective for quickly identifying cancer-causing chemicals.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research HR Gene Variants Identified in Mexican Patients with Alopecia Areata
A specific gene variant may increase the risk of developing Alopecia Areata.
research β1 Integrins with Individually Disrupted Cytoplasmic NPxY Motifs Are Embryonic Lethal but Partially Active in the Epidermis
Mutations in β1 integrins cause embryonic death but have milder effects on skin.
research Microarray Gene Expression Analysis of Lesional Skin in Canine Pemphigus Foliaceus
Canine pemphigus foliaceus involves significant immune activity and shares similarities with human pemphigus.
research In vivo skin leptin modulation after 14 MeV neutron irradiation: a molecular and FT-IR spectroscopic study
research The secret identities of TMPRSS2: Fertility factor, virus trafficker, inflammation moderator, prostate protector and tumor suppressor
TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.
research Protein Kinase C δ Overexpressing Transgenic Mice Are Resistant to Chemically but not to UV Radiation–Induced Development of Squamous Cell Carcinomas: A Possible Link to Specific Cytokines and Cyclooxygenase-2
Mice with extra PKCδ resist chemical-induced skin cancer but not UV-induced.
research LGR5 is a Marker of Poor Prognosis in Glioblastoma and is Required for Survival of Brain Cancer Stem‐Like Cells
High LGR5 levels in glioblastoma indicate poor prognosis and are essential for cancer stem cell survival.
research Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep
Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
research OsUEV1B, an Ubc enzyme variant protein, is required for phosphate homeostasis in rice
OsUEV1B protein is essential for controlling phosphate levels in rice.
research LRIG1 is a positive prognostic marker in Merkel cell carcinoma and Merkel cell carcinoma expresses epithelial stem cell markers
LRIG1 is linked to better survival in Merkel cell carcinoma.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Establishment and Characterization of Immortalized Human Dermal Papilla Cells Expressing Human Papillomavirus 16 E6/E7
Immortalized human dermal papilla cells were created that grow better and can still help form hair.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research Acute sensitivity of the oral mucosa to oncogenic K‐ras
Oncogenic K-ras causes rapid cancerous changes in the mouth's lining.
research Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer
Certain genetic variants increase the risk of aggressive prostate cancer.
research Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.