research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
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research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research Decision letter: ETS family transcriptional regulators drive chromatin dynamics and malignancy in squamous cell carcinomas
ETS2 drives cancer progression in squamous cell carcinoma and is linked to poor patient outcomes.
research Atualização em Coriorretinopatia Serosa Central
CSC is linked to mineralocorticoid receptor damage, stress, and steroid use, with treatments including drugs and laser therapies to prevent eye damage.
research Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA
Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
research Role of the SOX family in cancer immune evasion: Emerging player and promising therapeutic opportunities
Targeting SOX proteins may improve cancer treatment by restoring immune function.
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 1496 Transcription factor SOX2-induced amphiregulin inhibits pressure ulcer formation via suppressing oxidative stress after cutaneous ischemia-reperfusion in mice
SOX2 helps reduce wound size and pressure ulcer formation by suppressing oxidative stress and increasing antioxidant activity in mice.
research 47th Annual Conference of AOMSI
research Multiple iridociliary cysts in patients with mucopolysaccharidoses
Intralesional cidofovir may be a viable alternative treatment for SCC.
research Mesenchymal-epidermal interactions in hair follicle cycling and regeneration
STAT5 and Sox18 are crucial for hair growth and wound healing.
research Multisystem Inflammatory Syndrome in Adults (MIS-A) and SARS-CoV2: An Evolving Relationship
MIS-A is a severe complication after COVID-19, mostly in young black males, needing more research and awareness.
research Tourniquet syndrome: Interest of a systematic analysis of families’ social conditions to detect neglect situations
Checking family social conditions in tourniquet syndrome cases can help find neglect.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Ocular and Mucocutaneous Sequelae among Survivors of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Togo
Many survivors of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Togo suffer long-term eye and skin problems.
research Polycystic ovary syndrome in Singapore
PCOS care in Singapore can be bettered by refining referral systems, standardizing diagnosis and treatment, enhancing complication screening, and offering educational resources for clinicians.
research Store-operated calcium channels in skin
Calcium channels are vital for normal skin function and their dysfunction can lead to skin issues.
research El teorema del 0,7 o el otro teorema de Pitágoras
A CCS patient with severe complications was successfully treated using combined therapies.
research Psychosocial Correlates of Young Females Suffering from Polycystic Ovarian Syndrome (PCOS)
Women with PCOS often feel anxious and distressed about their appearance, especially in social situations.
research Sox2 in the dermal papilla regulates hair follicle pigmentation
Sox2 controls hair color by affecting pigment production in hair follicles.
research CEO View: An exciting start to 2021 for The Society
The Society had a promising start to 2021 with a new online platform, grants program, and elected Trustees.
research Severe cardiac conduction abnormalities associated with atypical toxic shock syndrome
A boy with toxic shock syndrome had severe heart rhythm problems but recovered with treatment.
research Abordagens psicológicas e novas terapêuticas perante as escolhas do paciente portador da Síndrome de Morris
Patients with Complete Androgen Insensitivity Syndrome need psychological support and multidisciplinary care for complex treatment decisions.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Submission to the College of Physicians and Surgeons of Ontario Re: Professional Obligations and Human Rights
The submission argued that CPSO's referral policy undermines doctors' civil liberties and recommended changes to protect conscientious objections.
research THE CAUCASUS ECONOMIC AND SOCIAL ANALYSIS JOURNAL OF SOUTHERN CAUCASUS
research Severe Acute Respiratory Syndrome (SARS)
The document concludes that rapid identification, isolation, and strict infection control are crucial to manage SARS outbreaks.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research Dodatek A: Model matematyczny AL/RC/ASE. Functional Androgen Axis (FOA) - wersja operacyjna v1.2
The model improves understanding of androgen interactions by focusing on signal intensity and system capacity.