research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
Search
for
Sort by
Research
360-390 / 1000+ resultsresearch A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
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 MEX3A regulates Lgr5 + stem cell maintenance in the developing intestinal epithelium
MEX3A is crucial for maintaining intestinal stem cells in mice.
research A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research Wwox Deficiency Causes Downregulation of Prosurvival ERK Signaling and Abnormal Homeostatic Responses in Mouse Skin
WWOX deficiency in mice causes skin and fat tissue problems due to disrupted cell survival signals.
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 SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome
Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
research Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
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 A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening
Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Moniletherix
Monilethrix causes short, fragile hair with no specific treatment available.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research Macrophage Activation Syndrome/Secondary Hemophagocytic Lymphohistiocytosis in Adult‐Onset Still's Disease: An Uncommon Initial Presentation in a Young Nepalese Female: A Case Report
Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.
research Clinical case of a patient with progressive supranuclear palsy – from symptom to diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.