research ILDS Newsletter No. 29
The ILDS Newsletter reported on efforts to support albinism patients in Tanzania and dermatological conferences.
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930-960 / 1000+ results research Effects of SLC45A2 and GPNMB on Melanin Deposition Based on Transcriptome Sequencing in Chicken Feather Follicles
SLC45A2 and GPNMB genes help control chicken feather color by promoting melanin.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Devices and genomic therapies
The document's conclusion cannot be provided because the document is not readable or understandable.
research GBP1 as a machine learning-prioritized biomarker and therapeutic target for epstein-barr virus-induced clear cell renal cell carcinoma: multi-omics causal validation
GBP1 is a key target for treating Epstein-Barr virus-related kidney cancer, and finasteride may help.
research Diffuse plate-like sheets of desquamation
The rash resolved after stopping ponatinib.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Systemic lupus erythematosus in a filly.
SLE should be considered in horses with immune-related skin issues.
research Isoxazole 9 (ISX9), a small molecule targeting Axin, activates Wnt/β‐catenin signalling and promotes hair regrowth
Isoxazole 9 (ISX9) may help regrow hair by activating certain cell signals.
research O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes
CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Bilateral Periorbital Erythema and Swelling as an Initial Presentation of Systemic Lupus Erythematosus: A Rare Case
Recognizing unusual symptoms can lead to early diagnosis and effective treatment of systemic lupus erythematosus.
research Editor's evaluation: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research A Case of Proliferative and Membranous Lupus Nephritis Complicated by Cryoglobulin-like Hyaline Thrombi
Lupus nephritis can cause severe kidney and blood vessel problems.
research Wavelength-encoded laser particles for massively-multiplexed cell tagging
New laser particles can track thousands of cells in 3D models, improving single-cell analysis.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
The study found genetic variations in sheep that affect traits like milk production, growth, and health.
research An elderly lady in shock.
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research Pincer Nails – A Rare Manifestation of Systemic Lupus Erythematosus
Pincer nails are rare in lupus patients and may be managed conservatively.
research Development of the CLASI as an outcome instrument for cutaneous lupus erythematosus
The CLASI is a reliable tool for measuring the severity of cutaneous lupus erythematosus.
research Occurrence of raspberry gall midge Lasioptera rubi Schrank (Diptera, Cecidomyiidae) in some raspberry cultivars.
Selenium imbalance can cause hair loss and skin issues.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research SLE classification criteria item relationships: implications on SLE as a disease entity
SLE is likely one disease with various symptoms, not multiple distinct diseases.
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 A Sonidegib Experience in the Treatment of Basal Cell Carcinoma with Systemic Lupus Erythematosus: A Case Report
Sonidegib effectively treated basal cell carcinoma in a patient with lupus without worsening lupus symptoms.
research Possible Carbamazepine-Induced Reversible Onychomadesis
Carbamazepine may cause reversible nail detachment.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Sertoliform endometrioid carcinoma of the right ovary
Sertoliform endometrioid carcinoma of the ovary, though rare, has a good prognosis when treated early.
research Toxic epidermal necrolysis caused by skin hypersensitivity to monosulfiram.
A woman's severe skin reaction was caused by an allergy to a skin treatment.
research Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency
Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.