research Risk of ovarian hyperstimulation syndrome in infertile patients with PCOS treated by HP HMG
Treating PCOS patients with HP HMG significantly raises the risk of ovarian hyperstimulation syndrome, needing careful dose management.
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300-330 / 1000+ results research Proceedings of the Joint CHSF /HSF /EHSF pre‐WCD Hidradenitis Suppurativa Symposium
HS needs personalized treatment plans and more research.
research APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research Hair Follicle Pluripotent Stem (hfPS) Cells
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research 40194 Polycystic Ovary Syndrome Diagnosis Does Not Predict Increased Hidradenitis Suppurativa Disease Severity
Having PCOS does not make hidradenitis suppurativa worse.
research High-content drug screening for rare diseases
High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
research Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Identification of differentially expressed genes HSPC016 in dermal papilla cells with aggregative behavior
HSPC016 gene is important for hair growth.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research Equine Hoof Stem Progenitor Cells (HPC) CD29 + /Nestin + /K15 + – a Novel Dermal/epidermal Stem Cell Population With a Potential Critical Role for Laminitis Treatment
Newly found stem cells in horse hooves show promise for treating a hoof disease called laminitis.
research 127 Long-term remission of Hailey-Hailey disease by Er:YAG ablative laser therapy
Er:YAG laser therapy effectively treats Hailey-Hailey disease, leading to long-term remission and improved quality of life.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging
People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
research Expression of 11β-hydroxysteroid dehydrogenase type 1 in visceral and subcutaneous adipose tissues of patients with polycystic ovary syndrome is associated with adiposity
Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research A 40-Year-Old Woman With Facial Papules and Flank Pain
Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Design and initial characterization of fabricated composite scaffold dHPCTM-HPE (decellularized human placental connective tissue matrix - human placental extract)
The new composite scaffold may effectively treat chronic and deep wounds.
research Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research The Development and Application of the Hair Diameter Index (HDI)
The Hair Diameter Index (HDI) was created to help plan hair restoration surgery after finding that visual hair density is linked to hair count and thickness, not volume.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.