research Management of pregnancy in a carrier of the Donohue mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
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630-660 / 1000+ results research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Monovalent antibody-conjugated lipid-polymer nanohybrids for active targeting to desmoglein 3 of keratinocytes to attenuate psoriasiform inflammation
The targeted nanohybrids effectively reduced psoriasis symptoms and improved skin health.
research Genetic Single Nucleotide Polymorphisms of IL-16 and its Concentration of Patients Infected with Alopecia Areata in Diyala Province, Iraq
Certain genetic variations in IL-16 may increase the risk of alopecia areata.
research Sexual difference, identification and object choice in individuals with sex differentiation disorders
Gender identity doesn't determine who people are attracted to or their sexual practices.
research Digit ratio 2D:4D is a possible indicator for androgenetic alopecia in males
Finger length ratio may indicate male hair loss.
research HDAC1-Overexpressing Dermal Papilla Cell-Derived Extracellular Vesicles Modulate p53 and Wnt/β-Catenin Signaling to Rescue Hair Follicle Regeneration in Androgenetic Alopecia
research 1428 DKK2 and SOSTDC1 cooperate to initiate the first catagen phase of the hair follicle growth cycle
DKK2 and SOSTDC1 together are necessary for the normal timing of the first regression phase in the hair growth cycle.
research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research BH10 Unequal National Health Service wig provision: toupée or no toupée, that is the question?
There are unequal access to wigs for alopecia patients in the UK, needing policy changes for fairness.
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
research 192 Three-dimensional ultra-high frequency ultrasound facilitates image processing to visualize microstructural changes of hair follicles and detects distinct disease phases of alopecia areata
3D ultrasound can detect hair follicle changes and disease phases in alopecia areata.
research 14. 膠原病患者における心理状態の統計学的観察(第45回 日本心身医学会東北地方会 演題抄録)
Suppressing ODC activity reduces tumor growth in hair follicles.
research Dermoscopy of discoid lupus erythematosus: Report of two cases
Dermoscopy helped diagnose discoid lupus erythematosus in two patients without needing skin biopsies.
research ABHRS Profile
The document's conclusion cannot be summarized because the content is not accessible or understandable.
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research CUTANEOUS MANIFESTATIONS OF HIV-INFECTION IN RELATION WITH CD4 CELL COUNTS IN HADOTI REGION
Low CD4 counts in HIV patients are linked to more skin disorders.
research Detection of NUDT15 R139C variants and azathioprine utilization in patients with dermatologic conditions
research In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide‐directed gene targeting
Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Hair follicle specific ACVR1/ALK2 critically affects skin morphogenesis and attenuates wound healing
Overexpression of ALK2 in hair follicles disrupts skin development and slows wound healing.
research Adult Onset Still Disease
High-dose corticosteroid treatment helped improve symptoms in a patient with Adult Onset Still Disease.
research 115 AE法による実機水車発電機軸受の診断(セッション4 評価・診断II)
KSR1 is crucial for certain skin tumor formation and could be a cancer therapy target.
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 CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research CUTANEOUS T-CELL LYMPHOMA
The document concludes that DAB389-IL2 is promising for treating refractory cutaneous T-cell lymphoma, but more research is needed on its effectiveness and side effect management.
research Alopecia areata in Down syndrome: a clinical evaluation
People with Down syndrome are more likely to have alopecia areata and need regular skin check-ups.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.