Multi-genic pattern found in rare type of hypopituitarism: a whole-exome sequencing study of Han Chinese with pituitary stalk interruption syndrome

scientific article published on 14 July 2017

Multi-genic pattern found in rare type of hypopituitarism: a whole-exome sequencing study of Han Chinese with pituitary stalk interruption syndrome is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1111/JCMM.13272
P932PMC publication ID5706574
P698PubMed publication ID28707430

P50authorCheng-Zhi WangQ95975804
P2093author name stringYan Qin
Bao-An Wang
Jing-Tao Dou
Yi-Ming Mu
An-Ping Wang
Qing-Hua Guo
Bai-Yu Han
Xiao-Sheng Wu
Zhi-Qiang Wu
P2860cites work17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.Q51809831
Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency.Q51968780
Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.Q53254800
HypopituitarismQ61846582
Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: prevalence, evolution of hormone dysfunction and genetic analysisQ83389707
Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotypeQ84991026
Physical and functional interactions between Zic and Gli proteinsQ24290895
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarismQ24531513
Transcription factor Zic2 inhibits Wnt/β-catenin protein signalingQ24634753
Wnt/β-catenin signaling in midbrain dopaminergic neuron specification and neurogenesisQ27692055
Identification of a Wnt/Dvl/beta-Catenin --> Pitx2 pathway mediating cell-type-specific proliferation during developmentQ28216579
WNT signaling affects gene expression in the ventral diencephalon and pituitary gland growthQ28509925
The canonical Notch signaling pathway: unfolding the activation mechanismQ29547725
Genetic regulation of pituitary gland development in human and mouseQ33590141
Genetic characterization of SF3B1 mutations in single chronic lymphocytic leukemia cellsQ33828825
Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.Q34160940
Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulationQ34794546
Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndromeQ34810924
Understanding synergy in genetic interactionsQ34996319
Endocrine disorders in Fanconi anemia: recommendations for screening and treatmentQ35096884
HESX1- and TCF3-mediated repression of Wnt/β-catenin targets is required for normal development of the anterior forebrainQ35445338
Notch signaling in postnatal pituitary expansion: proliferation, progenitors, and cell specificationQ37732555
Mastermind-like 1 (MamL1) and mastermind-like 3 (MamL3) are essential for Notch signaling in vivoQ38330440
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.Q38543146
Pituitary Stalk Interruption Syndrome: From Clinical Findings to PathogenesisQ38787264
NKD2, a negative regulator of Wnt signaling, suppresses tumor growth and metastasis in osteosarcomaQ38921006
Fanconi anemia: correlating central nervous system malformations and genetic complementation groups.Q39173536
Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysisQ43750873
A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption SyndromeQ46224633
Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary.Q46446572
Ncor2 is required for hematopoietic stem cell emergence by inhibiting Fos signaling in zebrafish.Q47074066
Developmental regulation of Notch signaling genes in the embryonic pituitary: Prop1 deficiency affects Notch2 expressionQ48090609
Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genesQ48132138
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiencyQ48234928
Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobeQ48320173
Congenital adenohypophysis aplasia: clinical features and analysis of the transcriptional factors for embryonic pituitary developmentQ48549891
PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption.Q48588361
Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesisQ48607890
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasiaQ49120156
P433issue12
P304page(s)3626-3632
P577publication date2017-07-14
P1433published inJournal of Cellular and Molecular MedicineQ1524063
P1476titleMulti-genic pattern found in rare type of hypopituitarism: a whole-exome sequencing study of Han Chinese with pituitary stalk interruption syndrome
P478volume21

Reverse relations

cites work (P2860)
Q92039578Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells
Q99631802Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing
Q98177844NBPF9 Gene May Be Involved in Congenital Hypopituitarism: A Whole-Genome Study of a Boy with Pituitary Stalk Interruption Syndrome and His Family
Q64106762Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both and , Coexisting With Pituitary Stalk Interruption Syndrome
Q96953533SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD)

Search more.