research KRASG12D mutant cells are outcompeted by wild type neighbours in adult pancreas in an EPHA2-dependent manner
Normal cells outcompete and remove mutant cells in the pancreas with the help of the EphA2 receptor.
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420-450 / 1000+ resultsresearch Delta‐6 desaturase knockout mouse illustrates previously undocumented pathology
Lack of certain fatty acids causes skin, immune, and fertility issues in mice.
research Tricorrexis nodosa localizada
Avoiding damage and using specific shampoo and supplements improved the hair condition.
research Triple-Negative Sjogren’s Syndrome and Recurrent Pneumothorax: An Uncommon Presentation of Autoimmune Disease
Recurrent pneumothorax can occur in Sjogren's syndrome, even without common markers.
research Clinical and Imagistic Aspects in Dog’s Hyperadrenocorticism Determined by Pituitary and Adrenal Nodules with Secretory Function
Most dogs with Cushing's syndrome have pituitary tumors causing varied symptoms, complicating diagnosis.
research FRI-02 FROM GIRLS TO BOYS TO OLDER MEN, THE INTERESTING TALE OF THE GUEVEDOCES AND 5-ALPHA REDUCTASE INHIBITORS
The discovery of 5α-reductase deficiency in guevedoces led to the development of important urologic medications.
research Simultaneous occurrence of neuromyotonia and morphoea: a cause-effect relationship?
Neuromyotonia and morphoea can occur together in the same body areas.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
research 6525 Alternating Hypothyroidism and Hyperthyroidism Complicated by Thyroid Eye Disease
A woman experienced fluctuating thyroid conditions and eye disease, but her symptoms improved with treatment.
research Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia patients can lead to thyroid problems.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Predisposing factors to premature coronary arterydisease in young (age ≤ 45 years) smokers: A single center retrospective casecontrol study from India
Young smokers with conditions like hypertension and diabetes are at higher risk for early coronary artery disease.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research Clinical features of taste disorders in Cronkhite-Canada syndrome: A report of 10 cases
Taste disorders in Cronkhite-Canada syndrome are severe in the front of the tongue but improve with treatment.
research Apparent Cortisone Reductase Deficiency: A Rare Cause of Hyperandrogenemia and Hypercortisolism
Cortisone reductase deficiency can cause high androgen and cortisol levels and may be missed in women with similar symptoms.
research Treatment of unilateral congenital ptosis
Frontalis suspension surgery using autologous fascia lata is effective for treating unilateral congenital ptosis with poor levator function.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research Increased frequency of the DI genotype of the angiotensin-I converting enzyme and association of the II genotype with insulin resistance in polycystic ovary syndrome
The study suggests certain ACE gene variations are more common in women with PCOS and may be linked to increased insulin resistance.
research Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
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 An Adult With Hair Loss! a Rare Case of Non-Classical 3β Hydroxysteroid Dehydrogenase (3β HSD) Deficiency
A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.
research Acute chylous peritonitis due to idiopathic pancreatitis mimicking acute appendicitis
A man thought to have appendicitis actually had a rare pancreas-related condition.
research A Rare Case of Cutis Verticis Gyrata with Underlying Cerebriform Intradermal Nevus
A patient with a scalp condition and benign skin tumor experienced hair loss and did not improve with treatment, choosing not to have surgery despite a small cancer risk.
research Acute severe hypokalemia caused by treatment of tongue squamous cell carcinoma with docetaxel and cisplatin: A case report
Chemotherapy with docetaxel and cisplatin can cause severe low potassium, requiring careful monitoring and treatment.
research VITAMIN D RESISTANT RICKETS WITH ALOPECIA: A FORM OF END ORGAN RESISTANCE TO 1,25 DIHYDROXY VITAMIN D
A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
research Chronic sphenoid sinusitis masquerading itself as migraine - a clinical case
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Rapunzel Syndrome in a Pediatric Female Patient: A Case Report of Trichobezoar Causing Intestinal Obstruction
Recognize Rapunzel syndrome in children with unexplained stomach issues for timely treatment.
research Clinical Guidance on the Monitoring and Management of Trastuzumab Deruxtecan (T-DXd)-Related Adverse Events: Insights from an Asia-Pacific Multidisciplinary Panel
Proactive monitoring and management are essential to maximize the benefits of Trastuzumab Deruxtecan while minimizing serious side effects.
research Acrodermatitis enteropathica – a diagnostic challenge: case report of late-onset, genetically proven disease with normal zinc serum levels
Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.