research Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
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research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research 42004 Scalp, eyebrow, and eyelash hair regrowth with continued ritlecitinib treatment among patients with alopecia areata without target efficacy response at Week 24: post hoc analysis of the ALLEGRO phase 2b/3 study
Continued ritlecitinib treatment can lead to hair regrowth in some patients with alopecia areata who initially don't respond.
research A kindred with mutant IKAROS and autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
research Sustained Scalp, Eyebrow, and Eyelash Hair Regrowth with Ritlecitinib Through Week 48 in Patients with Alopecia Areata: Post-Hoc Analysis of the ALLEGRO Phase 2b/3 Study
Ritlecitinib effectively maintains hair regrowth in alopecia areata patients.
research 046 Analysing the mechanistic basis of Ritlecitinib’s therapeutic effects in Alopecia Areata
Ritlecitinib effectively treats severe Alopecia Areata by reducing harmful immune activity in the skin.
research Multimodal therapeutic approach for a severe case of kaposiform lymphangiomatosis from procedural interventions to targeted therapies
Trametinib can effectively treat severe kaposiform lymphangiomatosis when other treatments fail.
research Skin abnormalities generated by temporally controlled RXRα mutations in mouse epidermis
RXRα is crucial for hair growth and skin cell function.
research JAK inhibitor deuruxolitinib shows encouraging hair re-growth in alopecia areata
research KRT72 wt Allele
KRT72 gene helps form hair.
research Efficacy and Safety of Ritlecitinib in the Asian Subpopulation of the ALLEGRO ‐2b/3 and ALLEGRO ‐ LT Clinical Studies for Alopecia Areata
Ritlecitinib effectively regrows scalp, eyebrow, and eyelash hair in Asians with alopecia areata and is safe.
research 587 Efficacy and Safety of topical KX-826 in Male Subjects with Androgenetic Alopecia:A Multicenter, Randomized, Double-blind, Placebo-controlled Phase II Study
KX-826 is safe and effectively increases hair count in men with hair loss.
research Chemical lumbar sympathectomy in the treatment of idiopathic livedo reticularis
Chemical lumbar sympathectomy is an effective and safe treatment for idiopathic livedo reticularis.
research Index of Suspicion
A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene causes monilethrix in a Han family.
research 63418 JAK3/TEC kinase pathways are active in alopecia areata lesions, and their inhibition with Ritlecitinib prevents αCD3/αCD28+IL-2 induced immune privilege collapse in healthy hair follicles ex vivo
Ritlecitinib may help treat alopecia areata by protecting hair follicles.
research Highly Conserved Keratin-Associated Protein 7-1 Gene in Yak, Taurine and Zebu Cattle
The KRTAP7-1 gene is very similar across different cattle and yak breeds and likely plays a role in hair strength and shape.
research Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
research Integrated Safety Analysis of Ritlecitinib, an Oral JAK3/TEC Family Kinase Inhibitor, for the Treatment of Alopecia Areata from the ALLEGRO Clinical Trial Program
Ritlecitinib is safe and well-tolerated for treating alopecia areata in patients aged 12 and older.
research 8507 Misdiagnosis of Graves’ and RAI Treatment in Patient with THRB Gene Mutation
Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
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 A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research RANKL Induces Organized Lymph Node Growth by Stromal Cell Proliferation
RANKL causes lymph nodes to grow by making certain cells multiply.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11
Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
research USE OF RITLECITINIB FOR THE TREATMENT OF ALOPECIA AREATA
Ritlecitinib effectively treats alopecia areata in patients 12 and older with fewer side effects.
research Evolution of Ritlecitinib Population Pharmacokinetic Models During Clinical Drug Development
Ritlecitinib shows promise as a versatile treatment for various autoimmune and inflammatory diseases.
research 078 The transmembrane protein LRIG1 regulates receptor tyrosine kinases in skin development and homeostasis
LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.